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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
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 t...
Autores principales: | Poojary, Shital, Jaiswal, Saurabh, Shah, Kapisha Sunny, Bhalala, Krishna B |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423241/ https://www.ncbi.nlm.nih.gov/pubmed/32831372 http://dx.doi.org/10.4103/ijd.IJD_416_18 |
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