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HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

Reference
Wimplinger, I, et al. “HCCS Loss-of-Function Missense Mutation in a Female With Bilateral Microphthalmia and Sclerocornea: A Novel Gene for Severe Ocular Malformations?”. Mol Vis, vol. 13, Aug. 2007, pp. 1475-82.
PubMed Reference Number (PMID)
17893649