Associated Papers
Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.
Kokitsu-Nakata NM et al.
American Journal of Medical Genetics. Part A, 2024
Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.
Bargiela M et al.
The Journal of Craniofacial Surgery, 2023
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.
Pedersen LC et al.
Communications Biology, 2019
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K et al.
Neurology, 2018
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD et al.
The Journal of Biological Chemistry, 2018
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND et al.
Nature Genetics, 2017
Select a paper to view details