Associated Papers
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Pfirrmann T et al.
Human Molecular Genetics, 2015
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE et al.
Plos One, 2014
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR et al.
American Journal of Human Genetics, 2012
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