A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism

被引:26
作者
de Lange, Jan
van Maarle, Mere C.
van den Akker, Hans P.
Redeker, Egbert J. W.
机构
[1] Acad Med Ctr, Dept Oral & Maxillofacial Surg, Acad Ctr Dent, NL-1100 DD Amsterdam, Netherlands
[2] Acad Med Ctr, Dept Clin Genet, NL-1100 DD Amsterdam, Netherlands
来源
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY | 2007年 / 103卷 / 03期
关键词
D O I
10.1016/j.tripleo.2006.05.012
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
[No abstract available]
引用
收藏
页码:378 / 381
页数:4
相关论文
共 18 条
[1]  
Anderson DE, 1962, Oral Surg Oral Med Pathol, V15, P5
[2]   The chaperone protein 14-3-3 interacts with 3BP2/SH3BP2 and regulates its adapter function [J].
Foucault, I ;
Liu, YC ;
Bernard, A ;
Deckert, M .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (09) :7146-7153
[3]  
HAMNER JE, 1967, ORAL SURG ORAL MED O, V27, P129
[4]  
HORTON WA, 2002, EMERY RIMOINS PRINCI, P4155
[5]   Cherubism - new hypotheses on pathogenesis and therapeutic consequences [J].
Hyckel, P ;
Berndt, A ;
Schleier, P ;
Clement, JH ;
Beensen, V ;
Peters, H ;
Kosmehl, H .
JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY, 2005, 33 (01) :61-68
[6]  
Jones W. A, 1933, AM J CANCER, V17, P946, DOI DOI 10.1158/AJC.1933.946
[7]   Cherubism and its charlatans [J].
Lannon, DA ;
Earley, MJ .
BRITISH JOURNAL OF PLASTIC SURGERY, 2001, 54 (08) :708-711
[8]   Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism [J].
Lo, B ;
Faiyaz-Ul-Haque, M ;
Kennedy, S ;
Aviv, R ;
Tsui, LC ;
Teebi, AS .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 121A (01) :37-40
[9]   The gene for cherubism maps to chromosome 4p16.3 [J].
Mangion, J ;
Rahman, N ;
Edkins, S ;
Barfoot, R ;
Nguyen, T ;
Sigurdsson, A ;
Townend, JV ;
Fitzpatrick, DR ;
Flanagan, AM ;
Stratton, MR .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :151-157
[10]  
MARX RE, 2002, ORAL MAXILLOFACIAL P, P744