Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

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 …

Over the last 5 years, disorders of nonmotile cilia have come of age and their study has
contributed immeasurably to our understanding of cell biology and human genetics. This …

Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as
sensors relaying information either from the extracellular environment or between two …

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

Objective To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.
M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). Methods …

Bardet–Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable
genetic heterogeneity that characterizes this disease is consistent with accumulating data on …