Papillon-Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS

• Hoofdauteurs: Fayiza Yaqoob Khan (Auteur), Suhail Majid Jan (Auteur), Mubashir Mushtaq (Auteur)
• Formaat: Boek
• Gepubliceerd in: Elsevier, 2014-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Papillon-Lefevre syndrome (PLS) is a very rare, autosomal recessive syndrome characterized by palmar-plantar hyperkeratosis and severe destructive periodontitis. Most patients present with PLS harbor mutations in the cathepsin C gene, but recent studies have identified individuals with classic PLS s...