Article

SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

2024-02-09

Abstract excerpt

<title>Abstract</title> <p>The molecular diagnosis of type 1 FacioScapuloHumeral Dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus while until recently, the diagnosis of FSHD2 relied on the absence of a shortened D4Z4 allele in clinically affected patients. The vast majority of FSHD2 patients carry a heterozygous variant in the <italic>SMCHD1</italic> gene. In addition, a decre...

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Literature Corpus work: f04bb40d-26ea-57ef-848e-5c28d033e782
DOI: 10.21203/rs.3.rs-3881525/v1

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