ライフサイエンスコーパス: congenita

1 with telomerase defects (e.g., dyskeratosis congenita).

2 nd nonhematological features of dyskeratosis congenita.

3 es may be seen in patients with paramyotonia congenita.

4 dicted sodium channel myotonia over myotonia congenita.

5 es that strongly resemble human syskeratosis congenita.

6 underlie the pathophysiology of dyskeratosis congenita.

7 and in a mutant associated with dyskeratosis congenita.

8 on (2'-O-Me) to the etiology of dyskeratosis congenita.

9 in the premature aging syndrome dyskeratosis congenita.

10 e human cold-sensitive disorder paramyotonia congenita.

11 tic agents for the treatment of pachyonychia congenita.

12 n human Cbf5 (dyskerin) lead to dyskeratosis congenita.

13 plain the mutational aspects of dyskeratosis congenita.

14 K) severely impairs mobility in pachyonychia congenita.

15 med in muscle from a mouse model of myotonia congenita.

16 te to the phenotype of X-linked dyskeratosis congenita.

17 ure syndrome autosomal dominant dyskeratosis congenita.

18 abnormal in some kindreds with dyskeratosis congenita.

19 amilies with autosomal dominant dyskeratosis congenita.

20 n of which leads to the disease dyskeratosis congenita.

21 ith the inherited muscular disorder myotonia congenita.

22 ight be a contributing cause of paramyotonia congenita.

23 nel deactivation contributes to paramyotonia congenita.

24 ne muscular dystrophy and adrenal hypoplasia congenita.

25 responsible for X-linked adrenal hypoplasia congenita.

26 d with the skeletal muscle disorder myotonia congenita.

27 many mutations associated with dyskeratosis congenita.

28 tial for treatment of patients with myotonia congenita.

29 c and pharmacologic mouse models of myotonia congenita.

30 d to the hereditary muscle disorder myotonia congenita.

31 affected by lethal arthrogryposis multiplex congenita.

32 ction of warmup in a mouse model of myotonia congenita.

33 ne marrow failure in hereditary dyskeratosis congenita.

34 n DBA than in Fanconi anemia or dyskeratosis congenita.

35 warming was useful in patients with myotonia congenita.

36 components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome characterized

37 mutations in dyskerin result in dyskeratosis congenita, a complex syndrome characterized by bone marr

38 exhibit some characteristics of dyskeratosis congenita, a human stem cell depletion syndrome caused b

39 Dyskeratosis congenita, a rare condition characterized by mucocutaneo

40 ively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with pr

41 omolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell

42 phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder." RMRP binds

43 ited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by m

44 one gene copy in a family with dyskeratosis congenita abrogates telomerase activity.

45 cterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TT

46 Aplasia cutis congenita (ACC) is a congenital epidermal defect of the

47 Aplasia cutis congenita (ACC) manifests at birth as a defect of the sc

48 aracterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-re

49 tracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clini

50 Autosomal dominant dyskeratosis congenita (AD DC), a rare inherited bone marrow failure

51 human AHC cause X-linked, adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH).

52 nsible for human X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH).

53 e-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gen

54 Adrenal hypoplasia congenita (AHC) is an X-linked disorder that typically p

55 X-linked adrenal hypoplasia congenita (AHC) with hypogonadotropic hypogonadism was r

56 e human disorder X-linked adrenal hypoplasia congenita (AHC), which resembles the phenotype of SF-1-d

57 ations result in X-linked adrenal hypoplasia congenita (AHC).

58 adrenal hyperplasia, and adrenal hypoplasia congenita all cause aldosterone deficiency, signs of whi

59 Arthrogryposis multiplex congenita (AMC) is a developmental condition characteriz

60 Arthrogryposis multiplex congenita (AMC), a clinical syndrome characterized by mu

61 ovement, leading to arthrogryposis multiplex congenita (AMC).

62 l recessive form of arthrogryposis multiplex congenita (AMC).

63 Dyskeratosis congenita, an inherited bone marrow failure syndrome ass

64 hown to cause one form of human dyskeratosis congenita, an inherited disease marked by abnormal telom

65 clear receptor gene cause adrenal hypoplasia congenita, an X-linked disorder characterized by adrenal

66 the autosomal dominant form of dyskeratosis congenita--an inherited syndrome characterised by aplast

67 egenerative syndromes including dyskeratosis congenita and aplastic anaemia.

68 e bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloid leukemia, l

69 umans have been associated with dyskeratosis congenita and aplastic anemia, both typified by impaired

70 and shown to be associated with dyskeratosis congenita and aplastic anemia.

71 emature aging diseases, such as dyskeratosis congenita and aplastic anemia.

72 dism in males affected by adrenal hypoplasia congenita and are consistent with a role for DAX1 in gon

73 paired in the stem cell disease dyskeratosis congenita and during human aging.

74 n, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth devel

75 other muscle disorders such as paramyotonia congenita and hyperkalemic periodic paralysis, our study

76 d in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis, which are a

77 w highlights recent research on dyskeratosis congenita and its relevance to other fields, including c

78 epidermolysis bullosa simplex, pachyonychia congenita and Messmann epithelial corneal dystrophy-caus

79 lomere-associated diseases like Dyskeratosis congenita and mouse models with dysfunctional telomeres,

80 of >20% were 100% specific for paramyotonia congenita and myotonia congenita, respectively.

81 , other hereditary PPKs such as pachyonychia congenita and Olmsted syndrome show prevalent pain in PP

82 A (hTR) species and precipitate dyskeratosis congenita and pulmonary fibrosis.

83 key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be i

84 1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3' portion

85 anemia), telomere maintenance (dyskeratosis congenita), and ribosome biogenesis (Diamond-Blackfan an

86 can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases t

87 mplications for drug therapy of paramyotonia congenita, and also provide an insight into structural r

88 e, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomerase complex.

89 perkalaemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia are three a

90 c periodic paralysis (HyperPP), paramyotonia congenita, and potassium-aggravated myotonia.

91 cific hTR element is mutated in dyskeratosis congenita, and the disease-associated hTR substitution i

92 yperkalemic periodic paralysis, paramyotonia congenita, and the potassium-aggravated myotonias.

93 did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, bu

94 tients with Fanconi's anemia or dyskeratosis congenita, another familial form of aplastic anemia, hav

95 edigree with autosomal dominant dyskeratosis congenita, anticipation, and telomere shortening.

96 t the mutations associated with dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fib

97 e bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fib

98 ociated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibrosis and cance

99 Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marro

100 DKC1 mutations in the disease dyskeratosis congenita are thought to act via this mechanism, causing

101 stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts

102 een described for patients with dyskeratosis congenita, bone marrow failure and idiopathic pulmonary

103 t can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutations.

104 ic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs telomere main

105 Recent work demonstrates that dyskeratosis congenita can also arise from mutations in specific shel

106 s, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Colli

107 m six individuals with X-linked dyskeratosis congenita caused by an unknown disease-causing variant i

108 verely reduced in patients with dyskeratosis congenita caused by inherited mutations in the gene enco

109 In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WR

110 henotypes to the human syndrome Dyskeratosis congenita, caused by mutations in a Nop60B homolog, is d

111 ening is virtually universal in dyskeratosis congenita, caused by mutations in genes encoding compone

112 deficiency in the rare disease dyskeratosis congenita) causes tissue pathology, but underlying mecha

113 Dyskeratosis congenita cells age prematurely and have very short telo

114 As in Fanconi anemia and dyskeratosis congenita, DBA is both an inherited bone marrow failure

115 Dyskeratosis congenita (DC) and its phenotypically severe variant, Ho

116 f incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis (PF).

117 Dyskeratosis congenita (DC) and related diseases are a heterogeneous

118 o TIN2, which is compromised in dyskeratosis congenita (DC) and related disorders.

119 Dyskeratosis congenita (DC) and related syndromes are inherited, life

120 Dyskeratosis congenita (DC) and related telomere biology disorders (T

121 he bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase

122 son syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, int

123 with Neutropenia (PN) for USB1, Dyskeratosis Congenita (DC) for PARN and Pontocerebellar Hypoplasia t

124 telomerase RNA component, cause dyskeratosis congenita (DC) in patients harboring mutations in TERC,

125 X-linked dyskeratosis congenita (DC) is a bone marrow failure syndrome caused

126 Dyskeratosis congenita (DC) is a genetic disorder of defective tissue

127 Dyskeratosis congenita (DC) is a multisystem bone marrow failure synd

128 Dyskeratosis congenita (DC) is a multisystem bone marrow failure synd

129 Dyskeratosis congenita (DC) is a progressive and heterogeneous congen

130 X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome ca

131 Dyskeratosis congenita (DC) is a rare genetic disorder characterized

132 Dyskeratosis congenita (DC) is a rare inherited bone marrow failure a

133 Dyskeratosis congenita (DC) is a rare inherited bone marrow failure s

134 Dyskeratosis congenita (DC) is a rare inherited form of bone marrow f

135 Dyskeratosis congenita (DC) is an inherited BM failure disorder that

136 Dyskeratosis congenita (DC) is an inherited bone marrow (BM) failure

137 Dyskeratosis congenita (DC) is an inherited bone marrow failure disor

138 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

139 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

140 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndr

141 Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disor

142 Dyskeratosis congenita (DC) is an inherited disorder with mutations a

143 Dyskeratosis congenita (DC) is an inherited multisystem disorder, cha

144 Dyskeratosis congenita (DC) is an inherited poikiloderma which in add

145 Dyskeratosis congenita (DC) is characterized by multiple features inc

146 ve bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations in telomeras

147 een identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA).

148 Dyskeratosis congenita (DC) patients suffer a progressive and ultimat

149 Patients with dyskeratosis congenita (DC) suffer from stem cell failure in highly p

150 Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature agi

151 s in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere att

152 Patients with dyskeratosis congenita (DC), a disorder of telomere maintenance, suff

153 Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow fa

154 A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with

155 maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by

156 in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow failure and can

157 ions in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow failure syndrom

158 hose found in the human disease dyskeratosis congenita (DC), an inherited syndrome characterized by b

159 d bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond

160 mere biology disorders, such as dyskeratosis congenita (DC), for which there are no effective treatme

161 skerin that are associated with dyskeratosis congenita (DC), on the basis of clinical genetics studie

162 utations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency leads to human t

163 form of the hereditary disease dyskeratosis congenita (DC).

164 nd bone marrow failure syndrome dyskeratosis congenita (DC).

165 cell failure diseases, such as dyskeratosis congenita (DC).

166 6), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK.

167 plications: it may be useful in dyskeratosis congenita diagnosis, in suggesting mutations in patients

168 t syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamon

169 the two other genes mutated in pachyonychia congenita diseases, K6 and K16, with that of K17 in huma

170 amilies with autosomal dominant dyskeratosis congenita display anticipation and have mutations in the

171 ell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and bladder cancer.

172 ith the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telomerase and sh

173 inked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encod

174 Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia, has been li

175 the autosomal dominant form of dyskeratosis congenita (DKC).

176 RC) occur in autosomal dominant dyskeratosis congenita (DKC).

177 plate, cause autosomal dominant dyskeratosis congenita due to telomere shortening.

178 mutation identified in a recessive myotonia congenita family.

179 ns of the multisystem syndrome, dyskeratosis congenita, forms of which display defects in telomerase

180 Mice harboring a dyskeratosis congenita germline Npm1 mutation recapitulate both hemat

181 RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new damaging and

182 Patients with myotonia congenita have muscle hyperexcitability due to loss-of-f

183 Patients with myotonia congenita have muscle hyperexcitability due to loss-of-f

184 Studies of dyskeratosis congenita have shed light on the pathobiology of aplasti

185 ure of variable severity due to dyskeratosis congenita, historically characterised by associated phys

186 of genetic disorders, including dyskeratosis congenita, idiopathic pulmonary fibrosis and bone marrow

187 fied in patients with classical dyskeratosis congenita impact either directly or indirectly on the st

188 Short telomeres, a hallmark of dyskeratosis congenita, impair tissue stem cell function in mouse mod

189 we map the gene responsible for dyskeratosis congenita in a large pedigree with autosomal dominant in

190 y be the first manifestation of dyskeratosis congenita in children, and hTERC mutations have been det

191 any of the classic features of dyskeratosis congenita in five of the six families.

192 d well explain the onset of the paramyotonia congenita in this family and emphasize the role of segme

193 rectly support the concept that pachyonychia congenita is a disease of the nail bed.

194 Dyskeratosis congenita is a premature aging syndrome characterized by

195 Dyskeratosis congenita is a progressive bone-marrow failure syndrome

196 Dyskeratosis congenita is a rare inherited disorder characterized by

197 Paramyotonia congenita is a temperature-sensitive skeletal muscle dis

198 Dyskeratosis congenita is an inherited BM failure syndrome disorder b

199 Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle ca

200 Autosomal-dominant dyskeratosis congenita is associated with heterozygous mutations in t

201 Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA compon

202 The hypothesis that dyskeratosis congenita is caused by a defect in IRES-mediated transla

203 Pachyonychia congenita is caused by mutations in keratin genes and ty

204 Dyskeratosis congenita is characterized by a mucocutaneous triad, bon

205 Dyskeratosis congenita is characterized by defective maintenance of b

206 Arthrogryposis multiplex congenita is defined by the presence of contractures acr

207 lomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyske

208 ed bone marrow failure syndrome dyskeratosis congenita, is a specific component of all scaRNPs, inclu

209 pachyonychia congenita, develop pachyonychia congenita-like PPK.

210 Genetic testing for occult dyskeratosis congenita may be warranted in selected patients with apl

211 Myotonia congenita (MC) is the commonest genetic skeletal muscle

212 potential and insertion of the dyskeratosis congenita mutation C408G led to a significant reduction

213 We have also identified a dyskeratosis congenita mutation cluster site within a modeled dyskeri

214 ults show that the hairpin with dyskeratosis congenita mutations is more stable and less flexible tha

215 es, a significant proportion of dyskeratosis congenita mutations remain uncharacterized or poorly und

216 he bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telomerase subuni

217 sorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal li

218 Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive con

219 hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair the specific

220 nts discovered in patients with dyskeratosis congenita or aplastic anemia show loss of function witho

221 Blood counts of patients with dyskeratosis congenita or aplastic anemia with mutations in telomeras

222 s in this gene can cause either pachyonychia congenita or steatocystoma multiplex, the features of th

223 ifferentiated state, iPSCs from dyskeratosis congenita patients harbour the precise biochemical defec

224 Many dyskeratosis congenita patients remain uncharacterized.

225 These findings in iPSCs from dyskeratosis congenita patients reveal that undifferentiated iPSCs ac

226 erved but reduced in cells from dyskeratosis congenita patients, where the PUS DKC1 is mutated.

227 occurs in tissue stem cells in dyskeratosis congenita patients.

228 that resembled those present in dyskeratosis congenita patients.

229 that resembled defects seen in dyskeratosis congenita patients.

230 elocity recovery cycles to evaluate myotonia congenita patients.

231 uch as in KRT6A and KRT6B cause pachyonychia congenita (PC) -1 and -2, respectively.

232 that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associ

233 ar keratoderma is a hallmark of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar

234 Pachyonychia congenita (PC) is a group of autosomal dominant disorder

235 Paramyotonia congenita (PC) is a human hereditary disease caused by o

236 Paramyotonia congenita (PC) is a human hereditary disorder wherein mi

237 Pachyonychia congenita (PC) is a keratinizing disorder predominantly

238 Pachyonychia congenita (PC) is a rare autosomal dominant skin disorde

239 Pachyonychia congenita (PC) is a rare, autosomal dominant keratin dis

240 Pachyonychia congenita (PC) is an autosomal dominant genodermatosis c

241 Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder

242 rfering RNA (siRNA; TD101) into pachyonychia congenita (PC) patient foot lesions resulted in improvem

243 rgets the causative mutation in pachyonychia congenita (PC) patients.

244 ing phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has

245 A notable exception is pachyonychia congenita (PC), a disorder in which the nail and other e

246 keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails,

247 coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder chara

248 ented to ectodermal dysplasias, pachyonychia congenita (PC), and steatocystoma multiplex (SM).

249 , KRT6B, KRT16, or KRT17, cause pachyonychia congenita (PC), characterized by hypertrophic nail dystr

250 he rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small interfering RN

251 16 null mouse skin, a model for pachyonychia congenita (PC)-associated palmoplantar keratoderma, prom

252 ial for the rare skin disorder, pachyonychia congenita (PC).

253 d often suggests a diagnosis of pachyonychia congenita (PC).

254 ns at the KRT16 locus can cause pachyonychia congenita (PC, OMIM:167200) or focal non-epidermolytic p

255 c mutation in a family with the paramyotonia congenita phenotype.

256 uronal sodium channel Nav1.7, a paramyotonia congenita (PMC) mutation in the human skeletal muscle so

257 also found to be effective for paramyotonia congenita, potassium-aggravated myotonia, long QT-3 synd

258 line mutations in patients with dyskeratosis congenita presenting with bone marrow failure and demons

259 type 2 (Jackson-Lawler) form of pachyonychia congenita, previously shown to arise from inherited K17

260 rum of disorders, which include dyskeratosis congenita, pulmonary fibrosis, and aplastic anemia, is c

261 T), cause the genetic disorders dyskeratosis congenita, pulmonary fibrosis, and other degenerative di

262 Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and live

263 Dyskeratosis congenita related telomere biology disorders (DC/TBDs) a

264 rized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal choles

265 irmed PC from the International Pachyonychia Congenita Research Registry who completed a survey on th

266 ific for paramyotonia congenita and myotonia congenita, respectively.

267 , Warsaw breakage syndrome, and dyskeratosis congenita, respectively.

268 recordings from two mouse models of myotonia congenita revealed the diaphragm had less myotonia than

269 ally related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson synd

270 of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocki

271 Given that all forms of pachyonychia congenita show an involvement of the nail, we compared t

272 chondrogenesis, spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest dysp

273 in vivo studies in a mouse model of myotonia congenita suggested that side effects could limit the ef

274 und in patients with hereditary paramyotonia congenita (T1313M on the III-IV linker and R1448C on the

275 In the genetic disorder dyskeratosis congenita, telomere shortening is accelerated, and patie

276 P syndrome is distinct from the dyskeratoses congenita telomeropathies, with which it shares some cli

277 ermatoses such as psoriasis and pachyonychia congenita, the currently unclear regulation of Krt17 exp

278 mouse models of the muscle disease myotonia congenita, the diaphragm has much less myotonia (muscle

279 atients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited

280 6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutatio

281 Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler ty

282 Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17.

283 Pachyonychia congenita type 2 is an inherited ectodermal dysplasia ch

284 r absence does not preclude the pachyonychia congenita type 2 phenotype.

285 ) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclu

286 7A) in patients presenting with pachyonychia congenita type 2.

287 as K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cys

288 uberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more d

289 Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a

290 useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessa

291 and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous featu

292 aintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three indi

293 habdomyosarcoma and arthrogryposis multiplex congenita which can be caused by fetal-specific AChR-blo

294 etter outcomes in patients with dyskeratosis congenita who require hematopoietic stem cell transplant

295 ells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that PARN is requ

296 e, DKC1, is mutated in X-linked dyskeratosis congenita (X-DC) and Hoyeraal-Hreidarsson (HH) syndrome.

297 One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an

298 mutated in people with X-linked dyskeratosis congenita (X-DC), a disease characterized by bone marrow

299 in the human syndrome, X-linked dyskeratosis congenita (X-DC).

300 (16q24.3), FA-D (3p22-26), and dyskeratosis congenita (Xq28) genes suggests this goal is achievable.