Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
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DOI: 10.1002/mgg3.1839
Abstract: BACKGROUND Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. METHODS… read more here.
Keywords: insensitivity pain; anhidrosis; ntrk1 gene; congenital insensitivity ... See more keywords