Add to ORKGPapillon-Lefevre syndrome (PLS) is an inherited human disease characterized by early-onset periodontitis and palmoplantar hyperkeratosis. Mutations of the lysosomal protease cathepsin C (CTSC) gene have been shown to be the genetic cause of Papillon-Lefevre syndrome. There are several case reports in China, while there has been no study on the genetic analysis of PLS. We studied two Chinese patients carrying Papillon-Lefevre syndrome and showing premature tooth loss and palmoplantar hyperkeratosis. Mutation screening and sequence analysis of the CTSC gene revealed a compound heterozygous mutation (c.415 G>A and c.778 T>C) in one patient, and two novel compound heterozygous mutations (c.851G>A and c.112delCCTG) in the other patient....
Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse...
SIR, Papillon\u2013Lefe`vre syndrome (PLS) is an autosomal recessivegenodermatosis mainly characteri...
The Papillon–Lefèvre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplan...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyp...
Introduction-Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by pal...
Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing pre...
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which...
AbstractBackgroundCathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gen...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by catheps...
Papillon-Lefevre syndrome is an autosomal recessive genodermatosis typically manifesting with the co...
A rare autosomal recessive disease Papillon lefevre syndrome is caused by mutation in the cathepsin ...
We describe a mutation and haplotype analysis of Papillon-Lefevre syndrome probands that provides ev...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early ons...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early ons...
<div><p>Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe e...
Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse...
SIR, Papillon\u2013Lefe`vre syndrome (PLS) is an autosomal recessivegenodermatosis mainly characteri...
The Papillon–Lefèvre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplan...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyp...
Introduction-Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by pal...
Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing pre...
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which...
AbstractBackgroundCathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gen...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by catheps...
Papillon-Lefevre syndrome is an autosomal recessive genodermatosis typically manifesting with the co...
A rare autosomal recessive disease Papillon lefevre syndrome is caused by mutation in the cathepsin ...
We describe a mutation and haplotype analysis of Papillon-Lefevre syndrome probands that provides ev...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early ons...
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early ons...
<div><p>Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe e...
Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse...
SIR, Papillon\u2013Lefe`vre syndrome (PLS) is an autosomal recessivegenodermatosis mainly characteri...
The Papillon–Lefèvre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplan...