首页 | 本学科首页   官方微博 | 高级检索  
     


X-linked syndrome: Mental retardation,hip luxation,and G6PD variant [Gd(+) Butantan]
Authors:R. C. Stocco dos Santos,O. C. O. Barretto,K. Nonoyama,N. H. C. Castro,O. P. Ferraz,J. Walter-Moura,C. C. S. Vescio,W. Be  ak
Affiliation:R. C. Stocco dos Santos,O. C. O. Barretto,K. Nonoyama,N. H. C. Castro,O. P. Ferraz,J. Walter-Moura,C. C. S. Vescio,W. Beçak
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.
Keywords:X-linked mental retardation  X-linked orthopedic diseases G6PD  G6PD variants
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号