ba0004op5 | (1) | ICCBH2015
Kadlub Natacha
, Sessiecq Quentin
, Lehalle Daphne
, Badoual Cecile
, Majouffre Claire
, Berdal Ariane
, Vazquez Marie-Paule
, Descroix Vianney
, Picard Arnaud
, Coudert Amelie
Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...