Cohen syndrome in two patients from China
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2053
Abstract: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease… read more here.
Keywords: cohen syndrome; two patients; patients china; syndrome two ... See more keywords
A Novel Variant in VPS13B Underlying Cohen Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "BioMed Research International"
DOI: 10.1155/2023/9993801
Abstract: Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. We used whole exome and Sanger sequencing to identify disease-causing variants in a Pakistani family with… read more here.
Keywords: novel variant; vps13b underlying; cohen syndrome; vps13b ... See more keywords