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Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation
- Source :
- Indian Journal of Dermatology, Vol 65, Iss 4, Pp 299-303 (2020)
- Publication Year :
- 2020
- Publisher :
- Wolters Kluwer Medknow Publications, 2020.
-
Abstract
- Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11Agene and a distinct clinical phenotype.
Details
- Language :
- English
- ISSN :
- 00195154 and 19983611
- Volume :
- 65
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Indian Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.10009e9426e84734804c271a790590a4
- Document Type :
- article
- Full Text :
- https://doi.org/10.4103/ijd.IJD_416_18