https://orcid.org/0009-0007-2118-3730
References
- Axelrod FB, Gold von Simson G. Hereditary sensory and autonomic neuropathies: types II, III and IV. Orphanet J Rare Dis. 2007;2:39. doi: 10.1186/1750-1172-2-39
- Indo Y. Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat. 2001;18:462–471. doi: 10.1002/humu.1224
- Liu Z, Liu J, Liu G, et al. Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: a case report and literature review. J Int Med Res. 2018;46:2445–2457. doi: 10.1177/0300060517747164
- Suresh B, Reddy V, Kurth I, et al. A child presenting with recurrent corneal ulcers: hereditary sensory and autonomic neuropathy (HSAN IV). Neuroophthalmology. 2018;43:310–312. doi: 10.1080/01658107.2018.1506937
- Szoke G, Renyi-Vamos A, Bider MA. Osteoarticular manifestations of congenital insensitivity to pain with anhidrosis. Int Orthop. 1996;20:107–110. doi: 10.1007/s002640050041
- Gao L, Guo H, Ye N, et al. Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis. PLOS ONE. 2013;8:e66863. doi: 10.1371/journal.pone.0066863
- Sasnur AH, Sasnur PA, Ghaus-Ul RS. Congenital insensitivity to pain and anhidrosis. Indian J Orthop. 2011;45:269–271. doi: 10.4103/0019-5413.80047
- Nolano M, Crisci C, Santoro L, et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol. 2000;111:1596–1601. doi: 10.1016/S1388-2457(00)00351-5
- Nabiyev V, Kara A, Aksoy MC. Multidisciplinary assessment of congenital insensitivity to pain syndrome. Childs Nerv Syst. 2016;32:1741–1744. doi: 10.1007/s00381-016-3059-5
- Perez-Lopez LM, Cabrera-González M, Gutiérrez-de la Iglesia D, et al. Update review and clinical presentation in congenital insensitivity to pain and anhidrosis. Case Rep Pediatr. 2015;2015:589852. doi: 10.1155/2015/589852
- Melamed I, Levy J, Parvari R, et al. A novel lymphocyte signaling defect: TRK. A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). J Clin Immunol. 2004;24:441–448. doi: 10.1023/B:JOCI.0000029106.84310.5e