title: A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
authors.affiliation: Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
authors.forename: Matías
authors.initials: M
authors.lastname: Morín
authors.forename: Antonio
authors.initials: A
authors.lastname: Viñuela
authors.forename: Teresa
authors.initials: T
authors.lastname: Rivera
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Ignacio
authors.initials: I
authors.lastname: del Castillo
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D055757:SOXE Transcription Factors; D013030:Spain; D014157:Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors