Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental
deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia …

Glycosylation is an essential biological process that adds structural and functional diversity
to cells and molecules, participating in physiological processes such as immunity. The …

Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

The vacuolar protein sorting-associated protein 13B (VPS13B) is a large and highly
conserved protein. Disruption of VPS13B causes the autosomal recessive Cohen syndrome …

Abstract Background Inherited retinal degenerations (IRDs) are a group of rare genetic
conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 …

Tremendous progress has been made in the genetic elucidation of obesity over the past two
decades, driven largely by technological, methodological and organizational innovations …

The Pakistani population is extensively diverse, indicating a genetic admixture of European
and Central/West Asian migrants with indigenous South Asian gene pools. Pakistanis are …

Background Cohen syndrome (CS) is an uncommon developmental disease with evident
clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases …

Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene
mutations. This syndrome is significantly underdiagnosed and is characterized by …

Introduction Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder
characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for …