Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
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
Skeletal complications in congenital insensitivity to pain and anhidrosis: a problem to reckon with
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DOI: 10.1007/s10072-021-05181-7
Abstract: Dear Editor, Congenital insensitivity to pain and anhidrosis (CIPA), also termed as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterised by generalised lack of pain sensation, inability to sweat (anhidrosis) and recurrent… read more here.
Keywords: insensitivity pain; skeletal complications; anhidrosis; congenital insensitivity ... See more keywords
Unilateral Anhidrosis With Ipsilateral Basal Cell Carcinomas.
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DOI: 10.1097/dss.0000000000001885
Abstract: A66-year-oldCaucasianmale presented for treatment of 3 basal cell carcinomas (BCCs) located on the left side of his back. He had previously been treated for approximately 20 BCCs on the trunk as well as the upper… read more here.
Keywords: unilateral anhidrosis; basal cell; history; cell carcinomas ... See more keywords
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis
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DOI: 10.1111/ene.14234
Abstract: Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are reported, including 19 with congenital insensitivity to pain with… read more here.
Keywords: anhidrosis; congenital insensitivity; insensitivity pain; chinese families ... See more keywords