Novel Sequence Variants in the MKKS Gene Cause Bardet ‐Biedl Syndrome with Intra‐ and Inter‐Familial Variable Phenotypes

Abstract Bardet‐Biedl Syndrome (BBS) is a multisystem disorder involving retina, kidney, limbs and nervous system. Additional features associated with BBS include dental anomalies, cardiovascular defects, hearing loss and speech impairment (Beales et al. 199; Ullah and Umair et al. 2017). Diagnosis of BBS is based on the presence of four out of six primary or three primary and two secondary phenotypes.
Source: Congenital Anomalies - Category: Genetics & Stem Cells Authors: Tags: Note Source Type: research