De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Clin Genet. 2008 Jan;73(1):85-8. doi: 10.1111/j.1399-0004.2007.00914.x. Epub 2007 Oct 22.

Authors

B Drera, G Tadini, F Balbo, L Marchese, S Barlati, M Colombi

PMID: 17953701
DOI: 10.1111/j.1399-0004.2007.00914.x

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Family Health
Frameshift Mutation*
Humans
Ichthyosis / genetics*
Italy
Keratosis
Membrane Proteins / genetics*
Skin Diseases, Genetic / genetics*

Substances

Membrane Proteins
loricrin