Article
Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
European neurology - 1 Jan 2004
Guo Yuh-Cherng, Liao Kwong-Kum, Soong Bing-Wen, Tsai Ching-Piao, Niu Dau-Ming, Lee Hsiang-Ying, Lin Kon-Ping
Abstract excerpt
Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by insensitivity to pain, anhidrosis, recurrent hyperpyrexia, mild mental retardation, and self-mutilating behavior. We report 2 brothers, aged 20 and 18 years, who suffered from phenotypes of CIPA. Both brothers had a branch site mutation in intron 7 (IVS7-33 T-->A) of the neurotrophic tyrosine kinase receptor type 1 gene. The...
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