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Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism

✍ Scribed by Gerhard Neuhäuser; John M. Opitz


Book ID
119838244
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
615 KB
Volume
7
Category
Article
ISSN
0009-9163

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Spinocerebellar ataxia, hypogonadotropic
✍ Limber, Ellen R. ;Bresnick, George H. ;Lebovitz, Ruth M. ;Appen, Richard E. ;Gil 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 846 KB

We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These th