Genotype-phenotype correlations in FSHD
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DOI: 10.1186/s12920-019-0488-5
Abstract: BackgroundFacial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and… read more here.
Keywords: genotype phenotype; phenotype correlations; correlations fshd; family ... See more keywords