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1 and fetal akinesia deformation sequence (ie, arthrogryposis).
2 elbows, and/or knees and joint contractures (arthrogryposis).
3 elbows, and/or knees and joint contractures (arthrogryposis).
4  mutants found in prenatally lethal forms of arthrogryposis.
5 ating HSCR, CIPO, peripheral neuropathy, and arthrogryposis.
6  Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis.
7 normal neurological exam, and 18 (20.7%) had arthrogryposis.
8 genetically heterogeneous disorders, such as arthrogryposis.
9 ort of 89 families with the clinical sign of arthrogryposis.
10 r which mutations are probably causative for arthrogryposis.
11 ed by distal weakness and wasting, or distal arthrogryposis.
12 -Hall syndrome (SHS), the most common distal arthrogryposis.
13 ts with cardiac myxoma syndromes but without arthrogryposis.
14 3) with dysphagia and 43.5% (n = 10/23) with arthrogryposis.
15 rome combine brain atrophy with clubfoot and arthrogryposis.
16 nd more recently neonatal presentations with arthrogryposis.
17 causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disord
18 ions are linked to the development of Distal Arthrogryposis-1 (DA-1).
19 zed at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), o
20 ties were common, including scoliosis (64%), arthrogryposis (33%) and foot deformities.
21 minant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or Marden-Walker syndrome (MWKS)
22  Additional features at presentation include arthrogryposis and congenital dislocation of the hips.
23 nvolving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are
24 nrelated families; all presented with severe arthrogryposis and died intrauterine or shortly after bi
25 r the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic a
26 ole of autoantibodies in some cases of fetal arthrogryposis and in acquired neuromyotonia, Morvan's s
27                   On postmortem examination, arthrogryposis and oligohydramnios were observed in some
28 ness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form o
29 ormations, including microcephaly as well as arthrogryposis and spontaneous abortions.
30 ns differing by age at onset and presence of arthrogryposis and/or movement disorder.
31 elination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise.
32 orders have been described that present with arthrogryposis, and variants of more than 220 genes have
33  8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second l
34 om 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous va
35            Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin
36                                       Distal arthrogryposis (DA) is a collection of rare disorders th
37                                       Distal arthrogryposis (DA) syndromes are the most common of the
38 s in six consanguineous families with distal arthrogryposis (DA) who had congenital contractures, sco
39 o screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as conc
40 on syndrome (FSS), a dominant form of distal arthrogryposis defined by congenital facial and distal s
41                                              Arthrogryposis, defined as congenital joint contractures
42 of 52 patients with clinical presentation of arthrogryposis from 48 different families.
43 tion and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual
44 E AKAV and SBV are the etiological agents of arthrogryposis-hydranencephaly syndrome in ruminants, wh
45 o as well as in vivo Both AKAV and SBV cause arthrogryposis-hydranencephaly syndrome in ruminants.
46 th severe neonatal myopathy characterized by arthrogryposis, hypotonia, and dilated cardiomyopathy.
47 external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology.
48 disorder with severe brain malformations and arthrogryposis in humans.
49 s consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral
50                                              Arthrogryposis is a clinical finding that is present eit
51                                       Distal arthrogryposis is the most common known heritable cause
52         It is the most severe form of distal arthrogryposis, leading to overcontraction of the hands,
53                    In 58.3% of families, the arthrogryposis manifestation could be explained by a mol
54                Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have be
55                                              Arthrogryposis multiplex congenita (AMC) is a developmen
56                                              Arthrogryposis multiplex congenita (AMC), a clinical syn
57 CCS) is a lethal autosomal recessive form of arthrogryposis multiplex congenita (AMC).
58 fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC).
59 milial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects
60                             TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare ne
61 h lower extremities predominance, neurogenic arthrogryposis multiplex congenita and juvenile amyotrop
62 e axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR
63                                              Arthrogryposis multiplex congenita is defined by the pre
64 s of myasthenia gravis, rhabdomyosarcoma and arthrogryposis multiplex congenita which can be caused b
65 oid leukemia; non-small cell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and
66 isystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfun
67 e consanguineous families affected by lethal arthrogryposis multiplex congenita.
68 ia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-limbed dysplasia (n =
69 d infants (n = 13) presented with congenital arthrogryposis, neonatal onset epilepsy in the first 3 d
70 m abnormalities (OR, 4.3; 95% CI, 1.6-11.2), arthrogryposis (OR, 29.0; 95% CI, 3.3-255.8), and matern
71 reported that Gpr126(-/-) mice have a lethal arthrogryposis phenotype.
72 ereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory fa
73 0-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrom
74 the autosomal recessive multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndro
75                                              Arthrogryposis, renal dysfunction and cholestasis syndro
76                                              Arthrogryposis, renal dysfunction, and cholestasis (ARC)
77 cterization of platelets from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC)
78                                              Arthrogryposis, renal dysfunction, and cholestasis (ARC)
79                                Expression of arthrogryposis, renal dysfunction, and cholestasis syndr
80 PS33B and VPS16B (VIPAS39) are causative for arthrogryposis, renal dysfunction, and cholestasis syndr
81                                              Arthrogryposis-renal dysfunction-cholestasis (ARC) syndr
82 ings have been reported for individuals with arthrogryposis-renal dysfunction-cholestasis (ARC) syndr
83                                              Arthrogryposis-renal dysfunction-cholestasis syndrome (A
84 a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insu
85  substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syn
86 re multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all c
87 arney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome
88                                       Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome
89          Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant
90              Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant dis
91     The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (
92 1[R2405P] that in human PIEZO2 causes distal arthrogryposis type 5 (DA5; p.
93  mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function
94 tations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autos
95 trismus-pseudocamptodactyly syndrome (distal arthrogryposis type 7; previously associated exclusively
96                                       Distal arthrogryposis type I (DA1) is a disorder characterized
97               MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations re
98 y, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B.
99           TNNI2 variants are a rare cause of arthrogryposis, whereas TNNI1 variants have not been con
100  fMyBP-C, MYBPC2, are associated with distal arthrogryposis, while loss of fMyBP-C protein is associa
101  newborn babies with microcephaly and severe arthrogryposis who died shortly after birth, one 2-month
102 congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are autos
103  further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associ

 
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