DifferentTGM1mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal-Reference-Cited by-同舟云学术

DifferentTGM1mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal

Published:2013-06 Issue:6 Volume:168 Page:1364-1367
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Esposito G.,De Falco F.,Neri I.,Graziano C.,Toschi B.,Auricchio L.,Gouveia C.,Sousa A.B.,Salvatore F.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12179/fullpdf

Reference10 articles.

1. Richard G Bale SJ Autosomal recessive congenital ichthyosis GeneReviews Pagon RA Bird TD Dolan CR Stephens K University of Washington www.ncbi.nlm.nih.gov/books/NBK1420/

2. Collodion baby: an update with a focus on practical management;Prado;J Am Acad Dermatol,2012

3. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

4. Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis;Esposito;J Invest Dermatol,2001

5. Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis;Esposito;Br J Dermatol,2007

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