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.

Detalles Bibliográficos
Autores principales: Razavi, Alireza, Jafarpour, Hamed, Khosravi, Mohammad reza, Abbasi, Ghazal, Dabbaghzadeh, Abbas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301562/
https://www.ncbi.nlm.nih.gov/pubmed/34322253
http://dx.doi.org/10.1002/ccr3.4492

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301562/
https://www.ncbi.nlm.nih.gov/pubmed/34322253
http://dx.doi.org/10.1002/ccr3.4492

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