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Bardet-Biedl syndrome: A rare case report from North India

1 Jan 2012

Abstract excerpt

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...

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PMID: 22421669
DOI: 10.4103/0378-6323.93656

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