A Novel Variant in VPS13B Underlying Cohen Syndrome
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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