𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nosology of the syndrome of spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy

✍ Scribed by Erdem, Enis ;Erbaş, Tomris ;Varli, Kubilay


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
167 KB
Volume
53
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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

Coloboma, mental retardation, hypogonadi
✍ Verloes, Alain; Temple, I. Karen; Bonnet, Sabine; Bottani, Armand 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 866 KB

Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome. Few cases h