A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
oleh: Alireza Razavi, Hamed Jafarpour, Mohammad reza Khosravi, Ghazal Abbasi, Abbas Dabbaghzadeh
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-07-01 |
Deskripsi
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.