Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
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DOI: 10.3390/genes14020404
Abstract: This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome… read more here.
Keywords: bbs; delineating spectrum; biedl syndrome; bardet biedl ... See more keywords