Sindrome cardiopatie-bassa statura-ipermobilità articolare-dismorfismi facciali da mutazione di TAB2
ORPHA:664401· Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
- Trasmissione
- Autosomal dominant
ORPHA:664401· Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation