OTX2 mutations contribute to the otocephaly-dysgnathia complex

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

JOURNAL OF MEDICAL GENETICS, cilt.49, sa.6, ss.373-379, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/jmedgenet-2012-100892
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.373-379
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.