Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. I...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Youssefian, Leila, Vahidnezhad, Hassan, Saeidian, Amir Hossein, Sotoudeh, Soheila, Mahmoudi, Hamidreza, Daneshpazhooh, Maryam, Aghazadeh, Nessa, Adams, Rebecca, Ghanadan, Alireza, Zeinali, Sirous, Fortina, Paolo, Uitto, Jouni
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643971/
https://ncbi.nlm.nih.gov/pubmed/28875980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.137
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