Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

In conclusion, our findings provide evidence of the role of KDM5C in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals. Disease expression of XLID in females should be taken into consideration for genetic counseling. This article is protected by copyright. All rights reserved.
PMID: 32279304 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 10, 2020 Category: Genetics & Stem Cells Authors: Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Mau-Them FT, Sorlin A, Jouan T, D Tags: Clin Genet Source Type: research