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

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. Cohen syndrome (CS) is a rare autosomal recessive disorder. CS in...

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Published inClinical case reports Vol. 9; no. 7; pp. e04492 - n/a
Main Authors Razavi, Alireza, Jafarpour, Hamed, Khosravi, Mohammad reza, Abbasi, Ghazal, Dabbaghzadeh, Abbas
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.07.2021
John Wiley and Sons Inc
Wiley
Subjects
Apoptosis
Bone marrow
Case Report
Case reports
Cohen syndrome
Hair
Infections
Laboratories
Microcephaly
Mutation
Neutropenia
Neutrophils
petechiae
Speech therapy
Ultrasonic imaging
mutation
petechiae
Cohen syndrome
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Summary: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. 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.
Bibliography:Funding information
None
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.4492