A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly

MeSH terms

• Asian People / genetics*
• Child, Preschool
• China
• Connexin 43 / genetics*
• DNA / genetics
• Exome / genetics*
• Female
• Genes, Dominant / genetics*
• High-Throughput Nucleotide Sequencing*
• Humans
• Male
• Models, Molecular
• Mutation*
• Pedigree
• Syndactyly / diagnosis
• Syndactyly / genetics*