Abstract The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of
non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly …

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

The normal development and function of photoreceptors is essential for eye health and
visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor …

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

The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS),
focusing on high‐risk gene variants, demographics, and morbidity. We employed the …

Nephronophthisis - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe
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Mutations of SDCCAG8 are associated with nephronophthisis and Bardet-Biedl syndrome,
as well as schizophrenia; however, the function of SDCCAG8 remains largely unknown …