Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
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DOI: 10.1111/nyas.14229
Abstract: Troyer syndrome is an autosomal recessive disease characterized by spastic paralysis, dysarthria, distal amyotrophy, and short stature. Recently, two siblings (an older brother and a younger sister) were admitted to our hospital for the chief… read more here.
Keywords: syndrome family; spg20 compound; troyer syndrome; heterozygous mutations ... See more keywords