A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

ABSTRACT: Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

SUBMITTER: Razavi A 

PROVIDER: S-EPMC8301562 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature