Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

다국어 초록 (Multilingual Abstract)

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참고문헌 (Reference)

1 Chavanas S, "Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing" 8 : 2097-2105, 1999

2 Koster J, "Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes" 15 : 1211-1223, 2004

3 Masunaga T, "Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene(ITGB4)" 13 : 61-64, 2004

4 Mellerio JE, "Pyloric atresia-junctional epidermolysis bullosa syndrome : mutations in the integrin beta4 gene(ITGB4)in two unrelated patients with mild disease" 139 : 862-871, 1998

5 Hattori M, "Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene" 45 : e203-e204, 2018

6 Charlesworth A, "Identification of a lethal form of epi-dermolysis bullosa simplex associated with a homozygous genetic mutation in plectin" 121 : 1344-1348, 2003

7 Schaapveld RQ, "Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180" 142 : 271-284, 1998

8 Wang JY, "Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intrabasal epidermal and lamina lucida cleavage planes : a survey of six cases" 34 : e200-e203, 2020

9 Chung HJ, "Epidermolysis bullosa with pyloric atresia" 28 : 43-54, 2010

10 Kim DK, "Epidermolysis bullosa simplex(Dowling-Meara type)associated with pyloric atresia and congenital urologic abnormalities" 41 : 411-415, 2000

11 Nakamura H, "Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene(PLEC1)" 7 : 28-35, 2005

12 Dang N, "Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome : three novel mutations and a review of the literature" 88 : 438-448, 2008

13 Jonkman MF, "Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex" 119 : 1275-1281, 2002

14 Hayashi AH, "Congenital pyloric atresia and junctional epidermolysis bullosa : a report of long-term survival and a review of the literature" 26 : 1341-1345, 1991

15 National Center for Biotechnology Information, "ClinVar;VCV000202108.5"

16 Yoshihara N, "A case of junctional epidermolysis bullosa with pyloric atresia due to integrin β4 gene mutations" 4 : 7-9, 2019