MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

Medicine & Life Sciences

• Hypertelorism with esophageal abnormality and hypospadias 100%
• Mutation 29%
• Hypertelorism 24%
• Chromosomes, Human, Pair 22 23%
• X-Linked Genes 22%
• Hypospadias 22%
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities 22%
• Frameshift Mutation 21%
• Phenotype 21%
• Genetic Heterogeneity 20%
• Cleft Lip 20%
• Nonsense Codon 20%
• Ubiquitin-Protein Ligases 20%
• Cleft Palate 19%
• Missense Mutation 18%
• Intellectual Disability 16%
• Exons 14%
• Genes 14%
• Brain 8%