Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review-Reference-Cited by-同舟云学术

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Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review

Published:2017-10-29 Issue:4 Volume:32 Page:e149-e151
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Diociaiuti A.¹,Castiglia D.²,Naim M.³,Condorelli A.G.⁴,Zambruno G.⁴,El Hachem M.¹

Affiliation:

1. Dermatology Unit; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

2. Laboratory of Molecular and Cell Biology; Istituto Dermopatico dell'Immacolata; IRCCS; Rome Italy

3. Dermatology Section; Shifa Hospital; Gaza State of Palestine

4. Genetic and Rare Diseases Research Area; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14639/fullpdf

Reference10 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

2. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex;Corden;Hum Mutat,1998

3. Epidermolysis bullosa simplex in Israel: clinical and genetic features;Ciubotaru;Arch Dermatol,2003

4. A functional “knockout” of human keratin 14;Rugg;Genes Dev,1994

5. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex;Jonkman;J Invest Dermatol,1996

Cited by 2 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. Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up;Journal of the European Academy of Dermatology and Venereology;2021-02-05

2. Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”;Matrix Biology;2019-10

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