Article
Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.
BMC medical genomics - 30 May 2023
Khaled Boushra, Alzahayqa Mahmoud, Jaffal Ahmad, Sallam Husam, Thawabta Rua'a, Mansour Mamoun, Alian Akram, Salah Zaidoun
Abstract excerpt
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect patient's life expectancy. CIP has different forms including CIP and CIPA. CIP with Anhidrosis (CIPA) is the most common type of CIP, which is caused mainly by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.