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

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.

Bibliographic Details
Main Authors: Alireza Razavi, Hamed Jafarpour, Mohammad reza Khosravi, Ghazal Abbasi, Abbas Dabbaghzadeh
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Clinical Case Reports
Subjects:
Cohen syndrome
mutation
petechiae
Online Access:https://doi.org/10.1002/ccr3.4492
Description
Summary: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.
ISSN:2050-0904

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