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

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):378-81. doi: 10.1016/j.tripleo.2006.05.012. Epub 2006 Sep 26.

Authors

Jan de Lange¹, Merel C van Maarle, Hans P van den Akker, Egbert J W Redeker

Affiliation

¹ Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry, Amsterdam, The Netherlands. lotte.jan@wxs.nl <lotte.jan@wxs.nl>

PMID: 17321449
DOI: 10.1016/j.tripleo.2006.05.012

No abstract available

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Amino Acid Substitution
Cherubism / genetics*
DNA Mutational Analysis
Female
Humans
Male
Mutation, Missense
Pedigree
Penetrance
Point Mutation
Proline / genetics
Threonine / genetics
Turkey

Substances

Adaptor Proteins, Signal Transducing
SH3BP2 protein, human
Threonine
Proline