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Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70839931

Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

About this item

Full title

Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

Publisher

Danvers, MA: Elsevier Inc

Journal title

Journal of investigative dermatology, 2001-05, Vol.116 (5), p.806-808

Language

English

Formats

Publication information

Publisher

Danvers, MA: Elsevier Inc

More information

Scope and Contents

Contents

Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we re...

Alternative Titles

Full title

Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_70839931

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70839931

Other Identifiers

ISSN

0022-202X

E-ISSN

1523-1747

DOI

10.1046/j.1523-1747.2001.01335.x

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