article_metadata: Filiz Hazan A Taylan Ozturk Hamit Adibelli Nurettin Unal Ajlan Tukun
article_metadata: Mol Vis
article_metadata: 2013;19:196-202.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23378733/
article_metadata: Mutation, Missense Paired Box Transcription Factors / genetics Waardenburg Syndrome / genetics
article_metadata: Mutation, Missense Paired Box Transcription Factors / genetics Waardenburg Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Amino Acid Substitution / genetics Base Sequence Case-Control Studies DNA Mutational Analysis Eye / pathology Female Genetic Carrier Screening Humans Infant Male PAX3 Transcription Factor Pedigree Phenotype Turkey Waardenburg Syndrome / pathology PAX3 Transcription Factor PAX3 protein, human Paired Box Transcription Factors
article_metadata: PMC3559089
article_metadata: 23378733
article_metadata: A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1
article_metadata: 2013