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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

✍ Scribed by Khan, Saadullah; Ullah, Imran; Irfanullah, ; Touseef, Muhammad; Basit, Sulman; Khan, Muhammad Nasim; Ahmad, Wasim

Book ID: 123381518
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 783 KB
Volume: 515
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.11.023

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Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous with mutations of 14 genes, accounting for approximately 70% of cases. Trialleli