Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological...

Descripción completa

Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182687/
https://www.ncbi.nlm.nih.gov/pubmed/25309764
http://dx.doi.org/10.1155/2014/141953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182687/
https://www.ncbi.nlm.nih.gov/pubmed/25309764
http://dx.doi.org/10.1155/2014/141953

Ejemplares similares