Article
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.
American journal of human genetics - 1 Jul 1998
Krakow D, Reinker K, Powell B, Cantor R, Priore M A, Garber A, Lachman R S, Rimoin D L, Cohn D H
Abstract excerpt
Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature onset of joint fusions, which initially affect the interphalangeal joints, by characteristic facies, and by deafness. We performed linkage analysis on a large Hawaiian family with multiple synostoses syndrome. Because another autosomal dominant disorder, proximal symphalangism, shares some clinical symptoms with multiple...
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