title: X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan].
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.
authors.affiliation: Serviço de Genética, Instituto Butantan, São Paulo, Brasil.
authors.forename: R C
authors.initials: RC
authors.lastname: dos Santos
authors.forename: O C
authors.initials: OC
authors.lastname: Barretto
authors.forename: K
authors.initials: K
authors.lastname: Nonoyama
authors.forename: N H
authors.initials: NH
authors.lastname: Castro
authors.forename: O P
authors.initials: OP
authors.lastname: Ferraz
authors.forename: J
authors.initials: J
authors.lastname: Walter-Moura
authors.forename: C C
authors.initials: CC
authors.lastname: Vescio
authors.forename: W
authors.initials: W
authors.lastname: Beçak
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D005954:Glucosephosphate Dehydrogenase