Associated Papers
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P et al.
Neurology, 2022
[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)].
Stromiedel H et al.
Laryngo- Rhino- Otologie, 2021
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Delaney A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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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