Associated Papers
Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.
Atencia Goñi J et al.
Endocrinologia, Diabetes Y Nutricion, 2024
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF et al.
Journal of Medical Genetics, 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
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT et al.
Nature Genetics, 2017
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