Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

OBJECTIVE To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients. DESIGN Case series. SETTING Referral center: Department of Dermatology (La Rabta Hospital), Tunis, Tunisia. PATIENTS Eight large Tunisian families with DD, with a total of 23 pati...

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Veröffentlicht in:	Archives of dermatology (1960) 2009-06, Vol.145 (6), p.654-656
Hauptverfasser:	Bchetnia, Mbarka, Charfeddine, Cherine, Kassar, Selma, Zribi, Hela, Guettiti, Haifa Tounsi, Ellouze, Feten, Cheour, Mejda, Boubaker, Samir, Osman, Amel Dhahri-Ben, Abdelhak, Sonia, Mokni, Mourad
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Calcium-Transporting ATPases - genetics Case-Control Studies Darier Disease - diagnosis Darier Disease - genetics Dermatology Developing Countries DNA Mutational Analysis Dyskeratosis Families & family life Female Genetic Predisposition to Disease - epidemiology Genotype & phenotype Heterozygote Humans Incidence Life Sciences Male Medical sciences Mutation Mutation, Missense Pedigree Phenotype Sampling Studies Skin diseases Tunisia - epidemiology
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