Identification of a Germline Mutation in Keratin 17 in a Family with Pachyonychia Congenita Type 2 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1999-11

AUTHORS

J T Celebi, E L Tanzi, Y J Yao, E J Michael, M Peacocke

ABSTRACT

Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. More... »

PAGES

848-850

Identifiers

URI

http://scigraph.springernature.com/pub.10.1046/j.1523-1747.1999.00762.x

DOI

http://dx.doi.org/10.1046/j.1523-1747.1999.00762.x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1012963424

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10571744


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