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
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author Razavi, Alireza
Jafarpour, Hamed
Khosravi, Mohammad reza
Abbasi, Ghazal
Dabbaghzadeh, Abbas
author_facet Razavi, Alireza
Jafarpour, Hamed
Khosravi, Mohammad reza
Abbasi, Ghazal
Dabbaghzadeh, Abbas
author_sort Razavi, Alireza
collection PubMed
description 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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spelling pubmed-83015622021-07-27 A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation Razavi, Alireza Jafarpour, Hamed Khosravi, Mohammad reza Abbasi, Ghazal Dabbaghzadeh, Abbas Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2021-07-23 /pmc/articles/PMC8301562/ /pubmed/34322253 http://dx.doi.org/10.1002/ccr3.4492 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Razavi, Alireza
Jafarpour, Hamed
Khosravi, Mohammad reza
Abbasi, Ghazal
Dabbaghzadeh, Abbas
A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title_full A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title_fullStr A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title_full_unstemmed A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title_short A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
title_sort vps13b mutation in cohen syndrome presented with petechiae: an unusual presentation
topic Case Report
url 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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