A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report

• Main Authors: Qian Hu (Author), Jingqun Mai (Author), Qinqin Xiang (Author), Bin Zhou (Author), Shanling Liu (Author), Jing Wang (Author)
• פורמט: ספר
• יצא לאור: BMC, 2022-02-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for th...