Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene (NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herei...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Int Med Res
Κύριοι συγγραφείς: Liu, Zhenlei, Liu, Jiaqi, Liu, Gang, Cao, Wenjian, Liu, Sen, Chen, Yixin, Zuo, Yuzhi, Chen, Weisheng, Chen, Jun, Zhang, Yu, Huang, Shishu, Qiu, Guixing, Giampietro, Philip F., Zhang, Feng, Wu, Zhihong, Wu, Nan
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: SAGE Publications 2018
Θέματα:
Case Reports
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6023048/
https://ncbi.nlm.nih.gov/pubmed/29619836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060517747164
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