Article

Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndrome

2022-05-05

Abstract excerpt

<h4>Background: </h4> Chanarin-Dorfman Syndrome (CDS) is a rare autosomal recessive type of Non-bullous Congenital Ichthyosiform Erythroderma (NCIE) caused by mutations in the ABHD5 . <h4>Methods: </h4>: Whole-exome sequencing (WES) was performed on a 4-year-old boy born to a non- consanguineous marriage. This boy had developed skin dryness and scaling. Two other individuals from a related family with non-consangu...

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Literature Corpus work: 56091a54-5228-5f3c-bb5f-4d79c3a4513e
DOI: 10.21203/rs.3.rs-1608519/v1

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