| Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. | |
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MedLine Citation:
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PMID: 9321767 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal recessive pattern of inheritance. The cases presented illustrate that this syndrome is still poorly recognised. We provide a review and analysis of previously reported cases and the differential diagnosis, which might aid in the identification of additional cases. |
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Authors:
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P Rump; B C Hamel; A J Pinckers; P A van Dop |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of medical genetics Volume: 34 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1997 Sep |
Date Detail:
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Created Date: 1998-01-15 Completed Date: 1998-01-15 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 767-71 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, University Hospital Nijmegen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cerebellar Ataxia / genetics* Choroid Diseases / genetics* Female Humans Hypogonadism / drug therapy, genetics* Male Pregnancy Retina / pathology Retinal Degeneration Syndrome |
| Comments/Corrections | |
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