Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

Jouary, Thomas

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. [electronic resource] - The Journal of investigative dermatology Feb 2008 - 322-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1523-1747

10.1038/sj.jid.5700987 doi


Adult
Cathepsin C--genetics
Child, Preschool
DNA Mutational Analysis
Family Health
Female
Gene Deletion
Gene Dosage
Genetic Testing
Humans
Male
Papillon-Lefevre Disease--diagnosis