Article
Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
Acta dermato-venereologica - 1 Jan 2006
Ullbro Christer, El-Samadi Safia, Boumah Christine, Al-Yousef Nujoud, Wakil Salma, Twetman Svante, Alfadley Abdullah, Thestrup-Pedersen Kristian, Meyer Brian
Abstract excerpt
Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis. The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. Genotyping and mutation analyses were performed using standard molecular techniques, and dermatological and oral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.