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Was (wer) ist Papillon-Lefevre syndrome - definition
HUMAN DISEASE
Papillon-lefevre disease; Papillon-Lefevre disease; Papillon-Lefèvre disease; Papillon-Lefèvre syndrome; Papillon-Lefevre syndrome; Palmoplantar keratoderma with periodontitis; Papillon–Lefevre syndrome; Papillion-Lefevre syndrome; Papillon–Lefèvre disease
Papillon–Lefèvre syndrome
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.
Édouard Lefèvre
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FRENCH BOTANIST, LATER ENTOMOLOGIST (1839-1894)
Edouard Lefevre; Edouard Lefèvre
Édouard Lefèvre (22 January 183917 June 1894) was a French botanist and later entomologist who specialised in Coleoptera. He became a member of the Entomological Society of France in 1869, and twice served as president of the society in 1884 and 1893.
Orofaciodigital syndrome 1
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AN OROFACIODIGITAL SYNDROME CHARACTERIZED_BY POLYCYSTIC KIDNEY DISEASE AND VARIABLE INVOLVEMENT OF THE CENTRAL NERVOUS SYSTEM AND HAS_MATERIAL_BASIS_IN X-LINKED INHERITANCE OF THE OFD1 GENE.
Oral facial digital syndrome; Papillon-League-Psaume syndrome; Orofaciodigital syndrome type1; Papillon-Leage and Psaume syndrome; Oro-facial-digital syndrome; Papillon-Leage-Psaume Syndrome; Papillon-League and Psaume syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
Wikipedia
Papillon–Lefèvre syndrome
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.
