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Article

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

14 Jul 2022

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutational load in the clinical variability of BBS. A cohort of 99 patients from 77 different families with biallelic pathogenic variants in a BBS-associated gene was retrospectively...

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PMID: 35835773
DOI: 10.1038/s41525-022-00311-2

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