Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysi...
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
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More information
Scope and Contents
Contents
Pachyonychia congenita (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, palmoplantar hyperkeratosis and multiple pilosebaceous cysts. In some cases, natal teeth and hair abnormalities may be present. It is caused by mutations in keratin 17 or its expression partner keratin 6b. Here, an N92S (p.Asn92Ser)...
Alternative Titles
Full title
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view
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Record Identifier
TN_cdi_proquest_miscellaneous_733971129
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_733971129
Other Identifiers
ISSN
0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-008-0908-6
