bardet-biedl syndrome: a rare case report from north india
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ID: 201936
2012
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Abstract
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.
| Reference Key |
kumar2012indianbardet-biedl
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|---|---|
| Authors | ;Sumir Kumar;Bharat B Mahajan;Jyotisterna Mittal |
| Journal | crystallization of organic compounds: an industrial perspective |
| Year | 2012 |
| DOI |
10.4103/0378-6323.93656
|
| URL | |
| Keywords | Keywords not found |
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