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

Margherita Marchi, Vincenzo Provitera, Maria Nolano, Marcello Romano, Simona Maccora, Ilaria D'Amato, Erika Salvi, Monique Gerrits, Lucio Santoro, Giuseppe Lauria

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)202-206
Number of pages5
JournalJournal of the Peripheral Nervous System
Volume23
Issue number3
DOIs
Publication statusPublished - 1 Sep 2018

Keywords

  • congenital insensitivity to pain
  • skin biopsy
  • small fiber neuropathy
  • sodium channel
  • GENE
  • CHANNELOPATHY
  • PERCEPTION
  • MISSENSE
  • DELETION

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