Associated Papers
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
Suzuki J et al.
Journal of Human Genetics, 2014
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