Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• Alleles*
• Bone and Bones / diagnostic imaging
• Bone and Bones / pathology
• Female
• Genetic Association Studies*
• Genotype*
• Heart Defects, Congenital / diagnosis*
• Heart Defects, Congenital / genetics*
• Heart Septal Defects, Atrial / diagnosis*
• Heart Septal Defects, Atrial / genetics*
• Humans
• Infant
• Karyotyping
• Lower Extremity Deformities, Congenital / diagnosis*
• Lower Extremity Deformities, Congenital / genetics*
• Mutation*
• Phenotype
• T-Box Domain Proteins / genetics*
• Upper Extremity Deformities, Congenital / diagnosis*
• Upper Extremity Deformities, Congenital / genetics*