| Bardet-biedl syndrome and brain abnormalities. | |
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MedLine Citation:
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PMID: 17607597 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, hypogonadism, and renal abnormalities. To date, eleven genes have been cloned but there is still little knowledge about genotype/phenotype correlations. We describe three additional cases with BBS and cerebral abnormalities and focus on cerebellar abnormalities in BBS. |
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Authors:
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C Rooryck; S Pelras; J-F Chateil; C Cances; B Arveiler; A Verloes; D Lacombe; C Goizet |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuropediatrics Volume: 38 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2007 Feb |
Date Detail:
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Created Date: 2007-07-03 Completed Date: 2007-10-25 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 5-9 Citation Subset: IM |
Affiliation:
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Service de Génétique Médicale, CHU Pellegrin-Enfants, Bordeaux, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bardet-Biedl Syndrome
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genetics,
pathology* Cerebellum / abnormalities* Child Child, Preschool Female Humans Infant Infant, Newborn Male |
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