Condition: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B


rs889145646 in DNMT3B gene and FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B PMID 27153398 2016 Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

rs1057519643 in SMCHD1 gene and FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

PMID 23143600 2012 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

PMID 27059856 2016 The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

PMID 24128691 2013 Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

PMID 24075187 2013 The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

PMID 25256356 2015 Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

PMID 29748383 2018 FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

PMID 28067911 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

PMID 25370034 2015 Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.