Article
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.
European journal of medical genetics - 1 Oct 2022
Sabry Sahar, Abouzaid Maha Rashed, Mostafa Mostafa Ibrahim, Abdel-Hamid Mohamed Sayed, Saad Ahmed Khairy, Soliman Hala Nasr, Ahmed Nermeen El-Moataz Bellah
Abstract excerpt
BACKGROUND: Papillon Lefevre syndrome (PLS) is an autosomal recessive disorder that results from a mutated gene that encodes a lysosomal peptidase known as cathepsin C (CTSC). The clinical presentation of PLS involves mainly palmoplantar keratosis and periodontitis with a variable degree of severity. SUBJECTS: and methods: Our study included ten patients with a broad spectrum of palmoplantar keratosis and...
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