CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds

@article{BarYosef2004CHX10MC,
  title={CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds},
  author={Udy Bar-Yosef and Izzeldin Abuelaish and Tamar Harel and Neta Hendler and Rivka Ofir and Ohad S. Birk},
  journal={Human Genetics},
  year={2004},
  volume={115},
  pages={302-309}
}
Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two of Arab origin, one of Bedouin origin, and one of Persian-Jewish origin) with autosomal recessive microphthalmia/anophthalmia and no associated eye anomalies, and one Syrian–Jewish family with… CONTINUE READING