Ontology highlight
ABSTRACT:
SUBMITTER: Youssefian L
PROVIDER: S-EPMC5643971 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Youssefian Leila L Vahidnezhad Hassan H Saeidian Amir Hossein AH Sotoudeh Soheila S Mahmoudi Hamidreza H Daneshpazhooh Maryam M Aghazadeh Nessa N Adams Rebecca R Ghanadan Alireza A Zeinali Sirous S Fortina Paolo P Uitto Jouni J
European journal of human genetics : EJHG 20170906 11
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. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied ...[more]