Condition: Cherubism


rs121909146 in SH3BP2 gene and Cherubism PMID 14577811 2003 The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism.

PMID 11381256 2001 Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

PMID 12900899 2003 Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

PMID 14577811 2003 A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism.