Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2

Autor:	K M, Ward, F E, Cook-Bolden, A M, Christiano, J T, Celebi
Rok vydání:	2003
Předmět:	Adult Male Nail Diseases Ectodermal Dysplasia Keratoderma Palmoplantar DNA Mutational Analysis Mutation Missense Humans Keratins Pedigree
Zdroj:	Clinical and experimental dermatology. 28(4)
ISSN:	0307-6938
Popis:	Pachyonychia congenita is characterized by hypertrophic nail dystrophy and associated ectodermal features. PC-1 subtype is associated with mutations in keratins 6a or 16, whereas PC-2 subtype is linked to mutations in keratins 6b or 17. The correlation between the mutated gene and the type of PC has generally been consistent. In this report, we describe a case with overlapping clinical features of PC-1 and PC-2 in which a mutation in K6a was identified.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f4f60eaec85c27b5a7e984b91b4099e7 https://pubmed.ncbi.nlm.nih.gov/12823309 Zobrazit plný text záznamu Plný text ve formátu PDF