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Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. [PDF]
Wang R +7 more
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Congenital Insensitivity to Pain and Anhidrosis. [PDF]
Shin JY +4 more
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Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. [PDF]
Geng X +7 more
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[Congenital insensitivity to pain with anhidrosis in the literature].
Pedro, Gargantilla, Emilio, Pintor
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Congenital insensitivity to pain with anhidrosis
Pediatric Neurology, 2001Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones
L, Sztriha +4 more
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Congenital insensitivity to pain with anhidrosis
Muscle & Nerve, 1980AbstractA nine‐year‐old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6–10 μm.
E, Rafel +4 more
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Muscle involvement in congenital insensitivity to pain with anhidrosis
Pediatric Neurology, 1995A patient with congenital insensitivity to pain with anhidrosis, who had characteristic clinical features and biopsied sural nerve, is presented. Nerve pathology findings indicated a loss of the small myelinated and unmyelinated fibers. Biopsied muscle disclosed a marked variation in fiber size, some small fibers with central nuclei, and a small number
N, Tachi +4 more
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Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
neurogenetics, 2008Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation.
Kilic, SARA ŞEBNEM +5 more
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