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Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

AuthorsJ Mathews, C D Hansen, L Chandrashekar
JournalClinical and experimental dermatology (Clin Exp Dermatol) Vol. 46 Issue 2 Pg. 410-412 (Mar 2021) ISSN: 1365-2230 [Electronic] England
PMID33301203 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Keratin-6
Topics
  • Child, Preschool
  • Female
  • Homozygote
  • Humans
  • Keratin-6 (genetics)
  • Mutation, Missense
  • Pachyonychia Congenita (genetics)
  • Pedigree
  • Severity of Illness Index

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