نتایج جستجو برای: papillon
تعداد نتایج: 2555 فیلتر نتایج به سال:
The motivation of the Papillon project is to encourage the development of freely accessible Multilingual Lexical Resources by way of online collaborative work on the Internet. For this, we developed a generic community website originally dedicated to the diffusion and the development of a particular acception based multilingual lexical database. The generic aspect of our platform allows its use...
The oral-facial-digital syndromes (OFD) are part of a great number of genetic disorders. They are classified in categories based on characteristic abnormalities, including OFD type I (Papillon-Leage and Psaume syndrome) and OFD type II (Mohr syndrome). The aim of this article is to describe a clinical case of a patient with oralfacial-digital type II syndrome or Mohr syndrome, who underwent sur...
BACKGROUND Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. METHODS We analyzed...
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