Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy-Reference-Cited by-同舟云学术

Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

Published:2021-05 Issue: Volume:11 Page:63-68
ISSN:2352-5126
Container-title:JAAD Case Reports
language:en
Short-container-title:JAAD Case Reports

Author:

Ellis Carter,Eason Chelsea,Snyder Alan,Siegel Mark,Pai Gurpur Shashidhar,Ryan Erin,Pfendner Ellen G.,Lee Lara Wine

Publisher

Elsevier BV

Subject

Dermatology

Reference15 articles.

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2. Genitourinary complications of inherited epidermis bullosa: experience of the national epidermylosis bullosa registry and review of the literature;Fine;J Urol,2004

3. Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment;Mylonas;J Pediatr Surg,2019

4. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease;Mellerio;Br J Dermatol,1998

5. ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement;Lee;Acta Derm Venereol,2015

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report;JAAD Case Reports;2024-08

2. Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review;Frontiers in Pediatrics;2023-03-23

3. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

4. ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges;Acta Dermato-Venereologica;2022-05-10