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Article

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

23 Feb 2015

Abstract excerpt

Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by enlarged anterior eye segments. Mosaic corneal degeneration, presenile cataract and secondary glaucoma are associated with XMC. Beside that CHRDL1 encodes Ventroptin, a secreted bone morphogenetic protein (BMP) antagonist, the molecular mechanism of XMC is not well understood yet. In a family with broad phenotypic...

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PMID: 25712132
DOI: 10.1093/hmg/ddv063

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