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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Case Rep
Prif Awduron: Razavi, Alireza, Jafarpour, Hamed, Khosravi, Mohammad reza, Abbasi, Ghazal, Dabbaghzadeh, Abbas
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2021
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8301562/
https://ncbi.nlm.nih.gov/pubmed/34322253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4492
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