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Article

FSHD type 2 and Bosma arhinia microphthalmia syndrome

6 Jul 2018

Abstract excerpt

Objective To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction. Methods We examined and/or interviewed 14...

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PMID: 29980640
DOI: 10.1212/wnl.0000000000005958

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