A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín
Matías
M
Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Viñuela
Antonio
A
Rivera
Teresa
T
Villamar
Manuela
M
Moreno-Pelayo
Miguel A
MA
Moreno
Felipe
F
del Castillo
Ignacio
I
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
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors