Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural histor...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2016
Gaiak:
Phenotypes
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4975812/
https://ncbi.nlm.nih.gov/pubmed/26975306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103646
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