ライフサイエンスコーパス: bullosa

1 ecessive dystrophic subtype of epidermolysis bullosa.

2 ng gene replacement therapy for epidermolyis bullosa.

3 ients with dystrophic forms of epidermolysis bullosa.

4 ng disorder Herlitz junctional epidermolysis bullosa.

5 blistering disease, dystrophic epidermolysis bullosa.

6 members at risk for junctional epidermolysis bullosa.

7 ering skin disease, dystrophic epidermolysis bullosa.

8 agnostic of Herlitz junctional epidermolysis bullosa.

9 y and resilience in junctional epidermolysis bullosa.

10 s also perturbed in junctional epidermolysis bullosa.

11 ariants of dominant dystrophic epidermolysis bullosa.

12 e blistering disorders such as epidermolysis bullosa.

13 llosa, and dystrophic forms of epidermolysis bullosa.

14 ns in some forms of junctional epidermolysis bullosa.

15 variant of dominant dystrophic epidermolysis bullosa.

16 1) in patients with dystrophic epidermolysis bullosa.

17 candidate gene for dystrophic epidermolysis bullosa.

18 interstitial lung disease, and epidermolysis bullosa.

19 transplantation for dystrophic epidermolysis bullosa.

20 ents with recessive dystrophic epidermolysis bullosa.

21 to cutaneous diseases such as epidermolysis bullosa.

22 ents with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chronic skin damage.

23 th generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junctional epiderm

24 Severe generalized junctional epidermolysis bullosa, a lethal hereditary blistering disorder, is usu

25 th generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junctional epidermo

26 Epidermolysis bullosa acquisita (EBA) is a chronic mucocutaneous autoi

27 Epidermolysis bullosa acquisita (EBA) is a prototypic organ-specific a

28 Epidermolysis bullosa acquisita (EBA) is an acquired blistering skin d

29 Epidermolysis bullosa acquisita (EBA) is an acquired bullous disease o

30 Epidermolysis bullosa acquisita (EBA) is an AIBD associated with autoa

31 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

32 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

33 Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering dise

34 Epidermolysis bullosa acquisita (EBA) is an autoimmune sub-epidermal b

35 ue destruction in experimental epidermolysis bullosa acquisita (EBA), an AIBD caused by autoantibodie

36 employed immunization-induced epidermolysis bullosa acquisita (EBA), an autoimmune bullous disease c

37 In epidermolysis bullosa acquisita (EBA), an autoimmune disease with seve

38 ic those seen in patients with epidermolysis bullosa acquisita (see the related article beginning on

39 new therapeutic strategies for epidermolysis bullosa acquisita and related autoimmune diseases.

40 Epidermolysis bullosa acquisita autoantibodies bound to this domain ma

41 mine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present in normal hum

42 Epidermolysis bullosa acquisita is a subepidermal blistering disease a

43 Epidermolysis bullosa acquisita is an autoimmune blistering disease of

44 ence microscopy, not diagnosed epidermolysis bullosa acquisita or anti-laminin-332 mucous membrane pe

45 rthermore, autoantibodies from epidermolysis bullosa acquisita patients also reacted with NC2/COL.

46 IgG from an epidermolysis bullosa acquisita serum containing autoantibodies to epi

47 lied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous disease charact

48 ases are often associated with epidermolysis bullosa acquisita, Crohn's disease being the most freque

49 foliaceus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphigoid/cicatricia

50 tribute to the pathogenesis of epidermolysis bullosa acquisita.

51 ified as bullous pemphigoid or epidermolysis bullosa acquisita.

52 Only bilateral concha bullosa affects maxillary sinus volumes.

53 dren with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation.

54 f alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder with pathology s

55 er risk for Herlitz junctional epidermolysis bullosa and all variants of junctional epidermolysis bul

56 ns in patients with dystrophic epidermolysis bullosa and compared them with an established protocol u

57 he presence of unilateral or dominant concha bullosa and contralateral direction of septal deviation

58 a connection between the presence of concha bullosa and direction of septal deviation.

59 he milder recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes

60 tyrosinemia type I, junctional epidermolysis bullosa and type 1 diabetes.

61 th generalized atrophic benign epidermolysis bullosa, and applies a new methodology to define and cha

62 that seen in human junctional epidermolysis bullosa, and death occurs within a few days after birth.

63 lantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermolysis bullosa.

64 ty of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were co

65 eritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in which significa

66 different forms of junctional epidermolysis bullosa appear to affect certain critical intracellular

67 ile hemangiomas and dystrophic epidermolysis bullosa are reviewed.

68 = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in cSCC in situ (

69 severe generalized junctional epidermolysis bullosa born in the years 2000-2015.

70 the lethal form of junctional epidermolysis bullosa but, as adults, displayed the milder generalized

71 ffective treatment or cure for epidermolysis bullosa, but bone marrow transplantation has been sugges

72 severe generalized junctional epidermolysis bullosa by SCT is a last-ditch attempt still lacking pro

73 ents with recessive dystrophic epidermolysis bullosa can be corrected by homology-directed DNA repair

74 ents with recessive dystrophic epidermolysis bullosa can be morphologically altered, reduced in numbe

75 espectively, while the overall epidermolysis bullosa carrier frequency was calculated to be one in 11

76 based therapies for dystrophic epidermolysis bullosa caused by genetic deficiency of collagen VII.

77 ive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogene

78 The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin

79 The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII colla

80 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous d

81 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous d

82 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bullous disorder c

83 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bullous disorder o

84 Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder ch

85 Dystrophic epidermolysis bullosa (DEB) is due to mutations in the type VII collag

86 coding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous disease.

87 fferent variants of dystrophic epidermolysis bullosa (DEB).

88 n shown to underlie dystrophic epidermolysis bullosa (DEB).

89 tering skin disease dystrophic epidermolysis bullosa (DEB).

90 Bilateral concha bullosa did not influence the incidence of bilateral max

91 ients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its mineral conte

92 Heritable forms of epidermolysis bullosa (EB) are characterized by chronic, lifelong blis

93 Patients with epidermolysis bullosa (EB) do not carry a significantly increased risk

94 Epidermolysis bullosa (EB) is a class of intractable, rare, genetic di

95 Epidermolysis bullosa (EB) is a clinically and genetically heterogeneo

96 Epidermolysis bullosa (EB) is a group of autosomal dominant and recess

97 Epidermolysis bullosa (EB) is a group of genetic disorders in which pa

98 Epidermolysis bullosa (EB) is a group of mechanobullous genodermatoses

99 Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the

100 prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be

101 Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic

102 Epidermolysis bullosa (EB) simplex is a rare genetic condition typifie

103 Epidermolysis bullosa (EB) with late-onset muscular dystrophy (EB-MD)

104 Epidermolysis bullosa (EB), a group of complex heritable blistering di

105 ence in the different types of epidermolysis bullosa (EB).

106 autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering is associated

107 tions in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distinct mutations,

108 hat may arise in patients with epidermolysis bullosa following BPAG2 gene replacement, and can be use

109 Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal variant of junctional epi

110 Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlethal variant of

111 complex, and several forms of epidermolysis bullosa, genetic research has resulted in an evolving un

112 The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering disease affecting

113 tients with Herlitz junctional epidermolysis bullosa (H-JEB).

114 erosis or recessive dystrophic epidermolysis bullosa has led to the common finding of senescence and

115 Nasal septal deviation, contrary to concha bullosa, has influence on the development of maxillary s

116 y nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail dystrophy, pa

117 Angina bullosa hemorrhagica (ABH) describes benign subepithelia

118 u-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII

119 ations of recessive dystrophic epidermolysis bullosa in humans.

120 inical phenotype of junctional epidermolysis bullosa in the proband in this family probably arises du

121 uggest that Herlitz junctional epidermolysis bullosa in this patient developed as a result of reducti

122 ed severe recessive dystrophic epidermolysis bullosa, in which blood and marrow transplantation can a

123 nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin 5.

124 nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin 5.

125 Recessive dystrophic epidermolysis bullosa is a devastating blistering disease caused by mu

126 Junctional epidermolysis bullosa is a group of hereditary bullous disorders resul

127 Epidermolysis bullosa is a group of heritable skin fragility disorders

128 Herlitz junctional epidermolysis bullosa is a heritable bullous disease caused by mutatio

129 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub

130 Junctional epidermolysis bullosa is a heterogeneous autosomal recessively inherit

131 Epidermolysis bullosa is a heterogeneous group of heritable blistering

132 Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blisterin

133 Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blist

134 Epidermolysis bullosa is caused by mutations in at least 14 genes, lea

135 resence of nasal septal deviation and concha bullosa is connected with the development of sinuses and

136 Recessive dystrophic epidermis bullosa is ultrastructurally characterized by the absenc

137 anobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mu

138 Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six disti

139 Junctional epidermolysis bullosa (JEB) is a heterogeneous group of rare inherited

140 Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder charact

141 Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering

142 Junctional epidermolysis bullosa (JEB) is an inherited mechanobullous disease cha

143 ng disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations in the LAMB3 ge

144 onlethal variant of junctional epidermolysis bullosa (JEB).

145 In Herlitz junctional epidermolysis bullosa (laminin 5 abnormalities, n = 4) these values we

146 of distinct Herlitz junctional epidermolysis bullosa mutations in LAMB3 to 35.

147 different forms of junctional epidermolysis bullosa (n = 13).

148 autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls.

149 severe generalized junctional epidermolysis bullosa occurred more often than published previously.

150 Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant sk

151 ze that mutations in K2e underlie ichthyosis bullosa of Siemens and provide a comprehensive mutation

152 e 2B domain of K2e, were found in ichthyosis bullosa of Siemens families.

153 others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder chara

154 th generalized atrophic benign epidermolysis bullosa often show decreased expression of type XVII col

155 t in patients with one type of epidermolysis bullosa (OMIM #226650).

156 Herlitz junctional epidermolysis bullosa (OMIM#226700) is a lethal, autosomal recessive b

157 ed severe recessive dystrophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes b

158 ring skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant.

159 The recessive dystrophic epidermolysis bullosa patients had a homozygous single base-pair frame

160 rience in recessive dystrophic epidermolysis bullosa patients is probably related to other factors, s

161 etected, and in the junctional epidermolysis bullosa patients transcripts with in-frame skipping of e

162 The junctional epidermolysis bullosa patients were compound heterozygotes for a frame

163 we have screened 93 dystrophic epidermolysis bullosa patients yielding an overall sensitivity of 87%,

164 ndings in recessive dystrophic epidermolysis bullosa patients' skin were indistinguishable from norma

165 In the recessive dystrophic epidermolysis bullosa patients, transcripts containing in-frame skippi

166 inant and recessive dystrophic epidermolysis bullosa patients.

167 rmolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom the manifestations were m

168 molysis bullosa and junctional epidermolysis bullosa phenotypes in these families, reverse transcript

169 New epidermolysis bullosa phenotypes, genotypes and modes of transmission

170 stinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that o

171 (s), may be responsible for an epidermolysis bullosa pruriginosa phenotype.

172 nical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriat

173 ents with recessive dystrophic epidermolysis bullosa (RDEB) and normal dermal fibroblasts.

174 g disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneous squamous cel

175 Recessive dystrophic epidermolysis bullosa (RDEB) is a complex inherited skin disorder caus

176 portance: Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating, often fatal, inherited

177 e recessive dystrophic form of epidermolysis bullosa (RDEB) is a disorder of incurable skin fragility

178 Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility disorder char

179 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of

180 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder c

181 Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering dis

182 Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder charac

183 Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutatio

184 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder

185 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder characterized by

186 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of type VII collagen

187 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of type VII collagen

188 ilizing a recessive dystrophic epidermolysis bullosa (RDEB) knockout mouse model.

189 uals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell carcinoma (SCC

190 er coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a constant wound

191 tility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due to defective ex

192 cts cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder often accompa

193 neralized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genoder

194 uals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutat

195 lable for recessive dystrophic epidermolysis bullosa (RDEB), a severe heritable blistering disorder c

196 disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the large COL7A1

197 fected by recessive dystrophic epidermolysis bullosa (RDEB).

198 uals with recessive dystrophic epidermolysis bullosa (RDEB).

199 lies with recessive dystrophic epidermolysis bullosa (RDEB).

200 blistering disease dystrophic epidermolysis bullosa (RDEB).

201 ively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, through December

202 ssive dystrophic or junctional epidermolysis bullosa, respectively.

203 aled that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen

204 e set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mutation in exon

205 ed: p=0.731), nor unilateral/dominant concha bullosa (right: p=0.512; left: p=0,430) affected the asy

206 hrough studies that began with epidermolysis bullosa simplex (EBS) and now extend to a group of autos

207 Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant s

208 Importance: Epidermolysis bullosa simplex (EBS) is a group of clinically and genet

209 Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder char

210 Epidermolysis bullosa simplex (EBS) is a rare genetic condition typifi

211 Epidermolysis bullosa simplex (EBS) is a rare inherited condition in w

212 Epidermolysis bullosa simplex (EBS) is an incurable, inherited skin-bl

213 Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caus

214 The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in

215 tions in K5 or K14 genes cause epidermolysis bullosa simplex (EBS), a disorder with blistering in the

216 ied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal dominant condition c

217 One such disease is epidermolysis bullosa simplex (EBS), caused by mutations in the struct

218 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal layer keratinocyte

219 Js) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (MS) with myast

220 implicated in the etiology of epidermolysis bullosa simplex (EBS).

221 The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease

222 to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperkeratosis.

223 Epidermolysis bullosa simplex are dominant disorders of skin fragility

224 Epidermolysis bullosa simplex associated with late-onset muscular dyst

225 In epidermolysis bullosa simplex associated with plectin mutations the va

226 Epidermolysis bullosa simplex Dowling-Meara (MIM# 1317600) is the most

227 d these genes in a family with epidermolysis bullosa simplex Dowling-Meara.

228 in residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C K14 mutants.

229 e severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-negative mutations

230 of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) network collaps

231 nction with a possible role in epidermolysis bullosa simplex pathogenesis.

232 This is the second epidermolysis bullosa simplex patient reported with a premature termin

233 We report an epidermolysis bullosa simplex patient with a novel single base substit

234 Mutations in epidermolysis bullosa simplex patients could interfere with K14 degrad

235 n in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense mutation R125C

236 re faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable before commencin

237 tar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpetiform blisteri

238 ost severe of the three common epidermolysis bullosa simplex subtypes.

239 ld be applied to patients with epidermolysis bullosa simplex with intraepidermal blistering.

240 n the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frame

241 t clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L

242 from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and mic

243 ients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n = 3) or with aut

244 sociated with skin blistering (epidermolysis bullosa simplex).

245 epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma,

246 te, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita and Messmann epi

247 m macular dystrophy (VMD1) and epidermolysis bullosa simplex, type Ogna (EBS1).

248 een described in patients with epidermolysis bullosa simplex.

249 notype-genotype correlation in epidermolysis bullosa simplex.

250 ither of these genes can cause epidermolysis bullosa simplex.

251 one marrow transplantation for epidermolysis bullosa simplex.

252 genetic disorder Dowling-Meara epidermolysis bullosa simplex.

253 ous cell carcinomas arising in epidermolysis bullosa skin.

254 ons in predicting phenotype in epidermolysis bullosa solely based on mutation analysis of genomic DNA

255 lications in each of the major epidermolysis bullosa subtypes.

256 sease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A

257 severe generalized junctional epidermolysis bullosa treated with allogeneic stem cell therapy, but w

258 nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction amplification of

259 nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction amplification of

260 t nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction amplification o

261 er generalized atrophic benign epidermolysis bullosa variant.

262 and all variants of junctional epidermolysis bullosa was calculated to be one in 781 and one in 350,

263 Bilateral concha bullosa was connected with larger volume of maxillary si

264 computed tomography examinations and concha bullosa was observed in 42.1% of the patients' examinati

265 ated with recessive dystrophic epidermolysis bullosa, was unable to form antiparallel dimers.

266 ed in patients with dystrophic epidermolysis bullosa, we studied how these amino acid substitutions a

267 Agger nasi cells and concha bullosa were equally frequent (30.6%), and Haller cells

268 th generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation.

269 ile hemangiomas and dystrophic epidermolysis bullosa will be discussed.

270 50), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern.

271 patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (OMIM #226730).

272 ions in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia.

273 Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a

274 n who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and alloge

275 n autosomal recessive disorder epidermolysis bullosa with muscular dystrophy (MD-EBS) shows epidermal

276 In junctional epidermolysis bullosa with pyloric atresia (alpha6beta4 abnormalities,

277 Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal reces

278 Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with n

279 Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a c

280 rescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have suggested abn

281 g the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB).

282 ient with a form of junctional epidermolysis bullosa with skin fragility and dental anomalies who is

283 shed in the field of inherited epidermolysis bullosa within the past few years.

284 th severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity of 58%.