Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome

Rump P, Hamel BC, Pinckers AJ, van Dop PA. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome. J Med Genet. 1997 September; 34(9): 767-771.

PubMed ID: 
9321767