A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis
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DOI: 10.1111/cge.14698
Abstract: Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved… read more here.
Keywords: arthrogryposis; splice site; site variant; variant senp7 ... See more keywords