Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome

BACKGROUND: NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birt...

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Detalles Bibliográficos
Autores principales: Vahedi, Mahdieh, Parvaneh, Nima, Vahedi, Saeedeh, Shahrooei, Mohammad, Ziaee, Vahid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384535/
https://www.ncbi.nlm.nih.gov/pubmed/34447596
http://dx.doi.org/10.1155/2021/2023119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384535/
https://www.ncbi.nlm.nih.gov/pubmed/34447596
http://dx.doi.org/10.1155/2021/2023119

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