Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation
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چکیده
منابع مشابه
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting novel variants by the coordinates of the shared autozygome. We identified a novel splicing variant ...
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From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development (D.P.M., T.T., J.B., G.B.C.); and the U.S. Public Health Service (D.P.M., J.B.) — both in Bethesda, Md. Address reprint requests to Dr. Merke at DEB/NICHD/NIH, Bldg. 10, Rm. 10N262, 10 Center Dr., MSC 1862, Bethesda, MD 20892-1862, or at [email protected]. ©1999, Massachusetts Medical Socie...
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ژورنال
عنوان ژورنال: Neurology International
سال: 2016
ISSN: 2035-8377,2035-8385
DOI: 10.4081/ni.2016.6444