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

✍ Scribed by dos Santos, R. C. Stocco ;Barretto, O. C. O. ;Nonoyama, K. ;Castro, N. H. C. ;Ferraz, O. P. ;Walter-Moura, J. ;Vescio, C. C. S. ;Beçak, W.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
391 KB
Volume
39
Category
Article
ISSN
0148-7299

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✦ Synopsis


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-Sphosphate dehydrogenase variant.