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Bilateral microphthalmia
- ... of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular ...
- ... Tests of PAX6 PubMed COLOBOMA OF OPTIC NERVE MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE ...