Open AccessA VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
Author(s) -
Razavi Alireza,
Jafarpour Hamed,
Khosravi Mohammad reza,
Abbasi Ghazal,
Dabbaghzadeh Abbas
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4492
Subject(s) - medicine , dermatology , presentation (obstetrics) , dystrophy , mutation , neutropenia , pediatrics , pathology , surgery , genetics , biology , gene , toxicity
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.
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