A Large Mutational Study in Pachyonychia Congenita
A Large Mutational Study in Pachyonychia Congenita
About this item
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Author / Creator
Publisher
New York, NY: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York, NY: Elsevier Inc
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More information
Scope and Contents
Contents
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes,...
Alternative Titles
Full title
A Large Mutational Study in Pachyonychia Congenita
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Record Identifier
TN_cdi_proquest_miscellaneous_862271752
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_862271752
Other Identifiers
ISSN
0022-202X
E-ISSN
1523-1747
DOI
10.1038/jid.2011.20
