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

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 767-771

  Rump, P ^a   Hamel, B C J ^a   Pinckers, A J L G ^a   Van Dop, P A ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CATHARINA HOSPITAL   (Netherlands)

Author keywords

Ataxia; Boucher Neuhauser syndrome; Chorioretinal degeneration; Hypogonadism

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BOUCHER NEUHAUSER SYNDROME; CASE REPORT; CEREBELLAR ATAXIA; CHOROID; FEMALE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; PLEIOTROPY; PRIORITY JOURNAL; RETINA MALFORMATION; SIBLING;

ATAXIA;

EID: 0030931365     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.767     Document Type: Article

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