Am J Med Genet. 1991 May 1;39(2):133-6.

X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan].

dos Santos RC, Barretto OC, Nonoyama K, Castro NH, Ferraz OP, Walter-Moura J, Vescio CC, Beçak W.

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Serviço de Genética, Instituto Butantan, São Paulo, Brasil.

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.

PMID:: 2063914; [PubMed - indexed for MEDLINE]

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