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Papillon-Lefevre disease
Summary
- Synonym
-
- Papillon Lefevre syndrome
- Papillon-Lefvre syndrome
- Definition
- An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
- Super Class
- autosomal recessive disease ectodermal dysplasia tooth disease
