Article
A novel mutation in SCN9A in a child with congenital insensitivity to pain.
Pediatric neurology - 1 Jan 2014
Shorer Zamir, Wajsbrot Einav, Liran Tamir-Hostovsky, Levy Jacov, Parvari Ruti
Abstract excerpt
BACKGROUND: [corrected] Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise essentially normal (OMIM 243000). The recent discovery of the genetic defects underlying 3 monogenic pain disorders has provided additional and important insights about some components of human pain. Genetic studies in families demonstrating recessively...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
