Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhä...

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Bibliographic Details
Main Authors: Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Format: Online
Language:English
Published: Public Library of Science 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122416/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122416/

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