ANIRIDIA PHENOTYPE AND MYOPIA IN A TURKISH BOY WITH A PAX6 GENE MUTATION

ÇAĞLAYAN A. O., Robinson D.

GENETIC COUNSELING, cilt.22, sa.2, ss.155-159, 2011 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.155-159
  • Anahtar Kelimeler: PAX6, Myopia, Aniridia, De novo, LOCUS
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Aniridia phenotype and myopia in a Turkish boy with a PAX6 gene mutation: A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene. The c.474delC mutation was de nova and both parents had a normal eye phenotype.