Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in theCOL7Agene-Reference-Cited by-同舟云学术

Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in theCOL7Agene

Published:2013-04 Issue:2 Volume:55 Page:234-237
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Koshida Shigeki,Tsukamura Atsushi,Yanagi Takahide,Nakahara Sayuri,Takeuchi Yoshihiro,Kato Takashi,Tanaka Toshihiro,Nakano Hajime,Shimizu Hiroshi

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2012.03638.x/fullpdf

Reference10 articles.

1. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry;Fine;J. Am. Acad. Dermatol.,1991

2. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa;Christiano;Exp. Dermatol.,1996

3. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa;Fine;J. Am. Acad. Dermatol.,2000

4. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa;Uitto;Proc. Assoc. Am. Physicians,1995

5. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes;Varki;J. Med. Genet.,2007

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. Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family;Frontiers in Pediatrics;2022-11-07

2. Generation of a recessive dystrophic epidermolysis bullosa mouse model with patient-derived compound heterozygous mutations;Laboratory Investigation;2022-06

3. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing;Acta Dermato Venereologica;2020

4. Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis;JAAD Case Reports;2015-11