Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

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 form...

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Detalles Bibliográficos
Autores principales: Khaled, Boushra, Alzahayqa, Mahmoud, Jaffal, Ahmad, Sallam, Husam, Thawabta, Rua’a, Mansour, Mamoun, Alian, Akram, Salah, Zaidoun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228059/
https://www.ncbi.nlm.nih.gov/pubmed/37248554
http://dx.doi.org/10.1186/s12920-023-01544-5

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