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X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]
R C dos Santos1, O C Barretto, K Nonoyama
1Serviço de Genética, Instituto Butantan, São Paulo, Brasil.
American Journal of Medical Genetics
|May 1, 1991
Abstract:
An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-6-phosphate dehydrogenase variant.