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Article

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Molecular biology reports - 1 Dec 2023

Ali Amjad, Abdullah, Bilal Muhammad, Mis Emily Kathryn, Lakhani Saquib Ali, Ahmad Wasim, Ullah Imran

Abstract excerpt

BACKGROUND: Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity, hypogonadism, rod-cone dystrophy, cognitive impairment, and renal abnormalities (renal cystic dysplasia, anatomical malformation). To date about twenty-five genes have been identified to cause BBS, which accounts for about 80% of BBS diagnosis. METHODS: In the...

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PMID: 37897612
DOI: 10.1007/s11033-023-08816-4

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