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A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

AuthorsMatías Morín, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 8 Pg. 1032-7 (Apr 15 2008) ISSN: 1552-4833 [Electronic] United States
PMID18348274 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • SOX10 protein, human
  • SOXE Transcription Factors
  • Transcription Factors
Topics
  • DNA-Binding Proteins (genetics)
  • Hearing Loss, Sensorineural (diagnosis, genetics, physiopathology)
  • High Mobility Group Proteins (genetics)
  • Humans
  • Infant
  • Male
  • Mutation, Missense
  • SOXE Transcription Factors
  • Spain
  • Transcription Factors (genetics)
  • Waardenburg Syndrome (diagnosis, genetics, physiopathology)

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