| Bardet-Biedl syndrome: A rare case report from North India. | |
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MedLine Citation:
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PMID: 22421669 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases. |
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Authors:
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Sumir Kumar; Bharat B Mahajan; Jyotisterna Mittal |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Indian journal of dermatology, venereology and leprology Volume: 78 ISSN: 0973-3922 ISO Abbreviation: Indian J Dermatol Venereol Leprol Publication Date: 2012 Mar |
Date Detail:
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Created Date: 2012-03-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7701852 Medline TA: Indian J Dermatol Venereol Leprol Country: India |
Other Details:
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Languages: eng Pagination: 228 Citation Subset: IM |
Affiliation:
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Department of Skin and Veneral Diseases, G.G.S. Medical College, Faridkot, Punjab, India. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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