X-LINKED SYNDROME - MENTAL-RETARDATION, HIP LUXATION, AND G6PD VARIANT [GD(+) BUTANTAN]

被引：6

作者：

DOSSANTOS, RCS

BARRETTO, OCO

NONOYAMA, K

CASTRO, NHC

FERRAZ, OP

WALTERMOURA, J

VESCIO, CCS

BECAK, W

机构：

[1] UNIV SAO PAULO,FAC MED,SAO PAULO,BRAZIL

[2] HOSP CARMINO CARICHIO,SAO PAULO,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

X-LINKED MENTAL RETARDATION; X-LINKED ORTHOPEDIC DISEASES G6PD; G6PD VARIANTS;

D O I：

10.1002/ajmg.1320390204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：133 / 136

页数：4

共 10 条

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