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

Autor: Alireza Razavi, Hamed Jafarpour, Mohammad reza Khosravi, Ghazal Abbasi, Abbas Dabbaghzadeh
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Clinical Case Reports, Vol 9, Iss 7, Pp n/a-n/a (2021)
Druh dokumentu: article
ISSN: 2050-0904
DOI: 10.1002/ccr3.4492
Popis: 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.
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