Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report-Reference-Cited by-同舟云学术

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Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report

Published:2024-10 Issue: Volume:52 Page:25-27
ISSN:2352-5126
Container-title:JAAD Case Reports
language:en
Short-container-title:JAAD Case Reports

Author:

Almalki Basel,Alghamdi Yara^ORCID,Aman Abdullah,Alamri Samer,Alshareef Alhussain,Alraddadi Ali

Publisher

Elsevier BV

Reference9 articles.

1. Genetics of inherited ichthyoses and related diseases;Fischer;Acta Derm Venereol,2020

2. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in sorèze 2009;Oji;J Am Acad Dermatol,2010

3. Bricks and mortar of the epidermal barrier;Nemes;Exp Mol Med,1999

4. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis;Palmer;Nat Genet,2006

5. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1;Herman;Hum Mutat,2009

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