- Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndromeYeliz Guven
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 106:e33-44. 2008..In conclusion, this case report of a family has demonstrated the various general and orofacial features encountered in LADD syndrome...
- A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish familyNuriye Dinçkan
Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
Oral Surg Oral Med Oral Pathol Oral Radiol 114:e42-6. 2012..We report here the clinical and molecular findings of a family with 3 affected members in two generations showing variable clinical expressivity with the regression of symptoms with advancing age and the lack of penetrance...