Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease

The NLRP3 gene mutations are the cause of autosomal dominant autoinflammatory disorders (NLRP3-AID). Recently, hearing loss (HL) has been found to be the sole or major manifestation of NLRP3-AID. Here, we tested 110 autosomal dominant HL families with a custom panel of 237 HL genes and found one fam...

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Detalles Bibliográficos
Autores principales: Oziębło, Dominika, Leja, Marcin L., Jeznach, Aldona, Orzechowska, Magdalena, Skirecki, Tomasz, Więsik-Szewczyk, Ewa, Furmanek, Mariusz, Bałdyga, Natalia, Skarżyński, Henryk, Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204589/
https://www.ncbi.nlm.nih.gov/pubmed/35720340
http://dx.doi.org/10.3389/fimmu.2022.904632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204589/
https://www.ncbi.nlm.nih.gov/pubmed/35720340
http://dx.doi.org/10.3389/fimmu.2022.904632

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