Bardet–Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic
disorder characterized by six major defects including obesity, mental retardation, renal …

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features of the …

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …

Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal
dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male …

Primary cilia play a key role in sensory perception and various signaling pathways. Any
defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome …

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by
extensive inter-and intra-familial variability, in which oligogenic interactions have been also …

Whole exome sequencing (WES) is a powerful technique for identifying sequence changes
in the human genome. The goal of this study was to delineate the genetic defects in patients …

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 …

Bardet–Biedl syndrome (BBS; OMIM 209900) is a rare genetic disease causing damage to
multiple organs and affecting patients' quality of life in late adolescence or early adulthood …