Papillon-Lefèvre syndrome: report of three cases in the same family

Papillon-Lefèvre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition, and increased susceptibilit...

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Veröffentlicht in:	Turkish journal of pediatrics 2012-03, Vol.54 (2), p.171-176
Hauptverfasser:	Keskin-Yildirim, Zuhal, Simşek-Derelioğlu, Sera, Kantarci, Mecit, Yilmaz, Yücel, Büyükavci, Mustafa
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Female Humans Male Papillon-Lefevre Disease - genetics Radiography, Panoramic Siblings Turkey
Online-Zugang:	Volltext
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