175 citations
,
September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
5 citations
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June 2008 in “British Journal of Dermatology” 37 citations
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January 2005 in “Clinics in dermatology” This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.
8 citations
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December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.