Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
Zornitza Stark, Rebecca Storen, Bruce Bennetts, Ravi Savarirayan, Robyn V Jamieson
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2011
We thank the family for their participation in the research. We thank Scott Cohen and Katrina Slater for technical advice and assistance. We thank Simone Mandelstam for MRI scan review. We acknowledge support from the Ophthalmic Research Institute of Australia.