A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes. A 10‐year‐old girl with CIP, hyposmia and hypogeusia, and her unaffected twin and parents underwent next generation sequencing of SCN9...

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Detalles Bibliográficos
Autores principales: Marchi, Margherita, Provitera, Vincenzo, Nolano, Maria, Romano, Marcello, Maccora, Simona, D'Amato, Ilaria, Salvi, Erika, Gerrits, Monique, Santoro, Lucio, Lauria, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767138/
https://www.ncbi.nlm.nih.gov/pubmed/29978519
http://dx.doi.org/10.1111/jns.12280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767138/
https://www.ncbi.nlm.nih.gov/pubmed/29978519
http://dx.doi.org/10.1111/jns.12280

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