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...

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Detalles Bibliográficos
Autores principales: Poojary, Shital, Jaiswal, Saurabh, Shah, Kapisha Sunny, Bhalala, Krishna B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
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

Internet

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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