Novel compound heterozygous <i>ITGB4</i> mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita-Reference-Cited by-同舟云学术

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Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita

Published:2022-01-11 Issue:5 Volume:49 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Hsu Chung‐Hao¹^ORCID,Tu Wei‐Ting²,Chen Peng‐Chieh³,Yu‐Yun Lee Julia²,Hsu Chao‐Kai²³⁴^ORCID,Chiu Tsu‐Man¹⁵

Affiliation:

1. Department of Dermatology Changhua Christian Hospital Changhua Taiwan

2. Department of Dermatology National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan

3. Institute of Clinical Medicine College of Medicine National Cheng Kung University Tainan Taiwan

4. International Center for Wound Repair and Regeneration (iWRR) National Cheng Kung University Tainan Taiwan

5. Institute of Medicine Chung Shan Medical University Taichung Taiwan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16290

Reference5 articles.

1. Pyloric atresia–junctional epidermolysis bullosa syndrome: mutations in the integrin β4 gene (ITGB4) in two unrelated patients with mild disease

2. Immunofluorescence Analysis of Villous Trophoblasts: A Tool for Prenatal Diagnosis of Inherited Epidermolysis Bullosa with Pyloric Atresia

3. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: Histopathological delineation of an autosomal recessive disease

4. Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

5. The Pyloric Atresia—Junctional Epidermolysis Bullosa Syndrome

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1. Epidemiology of aplasia cutis congenita: A population‐based study in Europe;Journal of the European Academy of Dermatology and Venereology;2022-11-11

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