Subject Areas on Research
- Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
- Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
- Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse.