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 …

Until just a few years ago, the genetic determinants of obesity and metabolic syndrome were
largely unknown, with the exception of a few forms of monogenic extreme obesity. Since …

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 defining ciliopathy, notable for extensive allelic and
genetic heterogeneity, almost all of which has been identified through sequencing. Recent …

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 a genetically heterogeneous, pleiotropic disorder,
characterized by both congenital and late onset defects. From the analysis of the mutational …

Objective The aim of this study was to review bariatric procedure outcomes among patients
with Prader‐Willi syndrome (PWS), melanocortin 4 receptor (MC4R) mutations, Bardet‐Biedl …