Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

OBJECTIVE: To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a child who had typical clinical features but who was NLRP3 mutation negative based on conventional Sanger sequencing. METHODS: We performed whole-...

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Detalles Bibliográficos
Autores principales: Omoyinmi, Ebun, Melo Gomes, Sónia, Standing, Ariane, Rowczenio, Dorota M, Eleftheriou, Despina, Klein, Nigel, Aróstegui, Juan I, Lachmann, Helen J, Hawkins, Philip N, Brogan, Paul A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc 2014
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995009/
https://www.ncbi.nlm.nih.gov/pubmed/24431285
http://dx.doi.org/10.1002/art.38217

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