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The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.

Original publication

DOI

10.1038/ng.3776

Type

Journal article

Journal

Nat Genet

Publication Date

31/01/2017

Volume

49

Pages

176 - 178

Keywords

Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Repair, Gene Expression, Genetic Pleiotropy, Genomic Imprinting, Humans, Microphthalmos, Mutation, Nose, Protein Domains, Protein Multimerization, X Chromosome Inactivation