title: Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.
authors.affiliation: Department of Genetics, LSU Health Sciences Center, New Orleans, Louisiana.
authors.forename: Ian
authors.initials: I
authors.lastname: Casci
authors.forename: William
authors.initials: W
authors.lastname: Accousti
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D019943:Amino Acid Substitution; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D059472:Exome; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D033162:Incidental Findings; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D012097:Repressor Proteins; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors