Article
The Epigenetic Regulator SMCHD1 in Development and Disease.
Trends in genetics : TIG - 1 Apr 2017
Jansz Natasha, Chen Kelan, Murphy James M, Blewitt Marnie E
Abstract excerpt
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it...
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