Fig. 5From: A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature reviewDetection and comparison of the genes show that the mutation site of the patient was NM_001453:c.246C>A. The patient had a de novo heterozygous mutation with autosomal dominant inheritance. No FOXC1 mutation was found in other family membersBack to article page