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Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report

RATIONALE: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder characterized by insensitivity to noxious stimulus and the absence of sweating. Fractures and joint destruction are common complications, but detailed studies on mineral and skeletal hom...

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Detalles Bibliográficos
Autores principales: Li, Ningbo, Sun, Jiaoli, Guo, Shanna, Liu, Yi, Wang, Cong, Zhu, Changmao, Zhang, Xianwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392968/
https://www.ncbi.nlm.nih.gov/pubmed/30461622
http://dx.doi.org/10.1097/MD.0000000000013209