The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson N, O'Toole E, Milstone L, Hansen C, Shepherd A, Al‐Asadi E, Schwartz M, McLean W, Sprecher E, Smith F. The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal Of Dermatology 2014, 171: 343-355. PMID: 24611874, PMCID: PMC4282083, DOI: 10.1111/bjd.12958.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational Pachyonychia Congenita Research RegistryClinical diagnosisPeripheral blood leucocytesFollicular keratosisResearch RegistryBlood leucocytesOral leucokeratosisNail dystrophyKeratin mutationsUnreported mutationsPalmoplantar keratodermaChain reaction productsCase collectionDiagnosisKRT6CKRT6APolymerase chain reaction productsMolecular genetic analysisKRT6BKRT16KRT17Keratin genesMutationsTotal number