Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations-Reference-Cited by-同舟云学术

Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

Published:2013-03-25 Issue:4 Volume:168 Page:808-814
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Charlesworth A.,Chiaverini C.,Chevrant-Breton J.,DelRio M.,Diociaiuti A.,Dupuis R.P.,El Hachem M.,Le Fiblec B.,Sankari-Ho A.M.,Valhquist A.,Wierzbicka E.,Lacour J.P.,Meneguzzi G.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12202/fullpdf

Reference40 articles.

1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

2. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization;McLean;Genes Dev,1996

3. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy;Gache;J Clin Invest,1996

4. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy;Pulkkinen;Hum Mol Genet,1996

5. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1);Nakamura;J Mol Diagn,2005

Cited by 47 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. Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation;Heliyon;2024-07

2. Loss of cell junctional components and matrix alterations drive cell desquamation and fibrotic changes in Idiopathic Pulmonary Fibrosis;2024-06-22

3. Proteins in Scalp Hair of Preschool Children;Psych;2024-01-29

4. Multifaceted roles of mitochondria in wound healing and chronic wound pathogenesis;Frontiers in Cell and Developmental Biology;2023-09-11

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