Filiz Hazan A Taylan Ozturk Hamit Adibelli Nurettin Unal Ajlan Tukun
Mol Vis
2013;19:196-202.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23378733/
Mutation, Missense Paired Box Transcription Factors / genetics Waardenburg Syndrome / genetics
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
PMC3559089
23378733
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1
2013