Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

MeSH terms

• Amino Acid Substitution
• Consanguinity
• DNA-Binding Proteins / genetics*
• Developmental Disabilities / diagnosis
• Developmental Disabilities / genetics*
• Exome*
• Genetic Association Studies
• High-Throughput Nucleotide Sequencing*
• Humans
• Incidental Findings
• Infant, Newborn
• Mutation*
• Phenotype
• Repressor Proteins
• Scoliosis / diagnosis
• Scoliosis / genetics*
• Syndrome
• Transcription Factors / genetics*