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29 results
  1. ... click here . National Library of Medicine Genetics Home Reference Congenital insensitivity to pain with anhidrosis Tomorrow: The Japan Association of Patients with Congenital ...
  2. ... click here . National Library of Medicine Genetics Home Reference Congenital insensitivity to pain with anhidrosis Tomorrow: The Japan Association of Patients with Congenital ...
  3. ... Disorders to Consider in the Differential Diagnosis of Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) View in own window Gene Disorder MOI Comment / Reference KIF1A Hereditary spastic paraplegia 30 (OMIM 610357 ) AR ...
  4. ... more recent information. — ED. Table A. TECPR2-Related Hereditary Sensory and ... compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  5. ... own window Disorder Mechanism of Disease Causation Comment Reference HSAN2D LOF Progressively ↓ sensation to pain, temperature, & touch Hereditary Sensory and Autonomic Neuropathy Type II Congenital insensitivity to pain LOF Inability ...
  6. ... CMT (DI-CMT), distal spinal muscular atrophy (DSMA), hereditary sensory and autonomic neuropathy ... GeneReview / OMIM / Reference Other Designations 2 Ax De In Most commonly ...
  7. ... ZFHX2 Congenital insensitivity to pain (See also NTRK1 Congenital Insensitivity to Pain with Anhidrosis .) AR AD Inability to perceive pain from birth ... Azzedine H, Salih MA. GeneReviews(®). 1993 Review NTRK1 Congenital Insensitivity to Pain with ... 1993] Review NTRK1 Congenital Insensitivity to Pain ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis</url><title >Congenital insensitivity to pain with anhidrosis</ ...
  9. Peripheral nerves are nerves outside your brain and spinal cord. Learn about neuropathy and more than 100 other types of peripheral nerve disorders. ... What ...
  10. ... 000262 ​.2 Staretz-Chacham et al [2018] NTRK1 Congenital insensitivity to pain with anhidrosis AR c.1842_1843insT p.Pro615SerfsTer12 89% 1/ ... Herzog L, Shorer Z, Luder A, Parvari R. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations ...
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