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
✦ LIBER ✦
Moebius-Poland syndrome and hypogonadotropic hypogonadism
✍ Scribed by Diego López de Lara; Jaime Cruz-Rojo; Jaime Sánchez del Pozo; Maria Elena Gallego Gómez; Gregorio Lledó Valera
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 75 KB
- Volume
- 167
- Category
- Article
- ISSN
- 0340-6997
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