Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

OBJECTIVE: To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. METHODS: Clinical examination and genetic testing were conducted of a...

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Detalles Bibliográficos
Autores principales: Wang, Ting, Li, Haibo, Xiang, Jingjing, Wei, Bin, Zhang, Qin, Zhu, Qin, Liu, Minjuan, Sun, Miao, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536645/
https://www.ncbi.nlm.nih.gov/pubmed/28345382
http://dx.doi.org/10.1177/0300060517691699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536645/
https://www.ncbi.nlm.nih.gov/pubmed/28345382
http://dx.doi.org/10.1177/0300060517691699

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