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...

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Main Authors: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2014
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4182687/
https://ncbi.nlm.nih.gov/pubmed/25309764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/141953
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