OTX2 mutations contribute to the otocephaly-dysgnathia complex

Chassaing N., Sorrentino S., Davis E. E., Martin-Coignard D., Iacovelli A., Paznekas W., ...More

JOURNAL OF MEDICAL GENETICS, vol.49, no.6, pp.373-379, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-100892
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.373-379
  • Istanbul University Affiliated: Yes

Abstract

Background Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans.