PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.

This study provides evidence that clinical manifestations of PDCD6IP mutations as seen in our patients with PM and ID may be a novel cause for neurodevelopmental disorders. This article is protected by copyright. All rights reserved.
PMID: 32286682 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 13, 2020 Category: Genetics & Stem Cells Authors: Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W Tags: Clin Genet Source Type: research