A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.
de Lange
Jan
J
Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry, Amsterdam, The Netherlands. lotte.jan@wxs.nl <lotte.jan@wxs.nl>
van Maarle
Merel C
MC
van den Akker
Hans P
HP
Redeker
Egbert J W
EJ
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D019943:Amino Acid Substitution; D002636:Cherubism / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics; D014421:Turkey
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human; D013912:Threonine; D011392:Proline