A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita

Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.

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Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

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A Research of Pachyonychia Congenita Type 1 and Literature Analysis

Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia...

Pachyonychia Congenita in a Toddler

Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.

Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...