SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
Investigative Ophthalmology & Visual Science2020Vol. 61(12), pp. 6–6
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Terri L. Young, Kristina N. Whisenhunt, Jing Jin, Sarah M. LaMartina, Sean M. Martin, Tomokazu Souma, Vachiranee Limviphuvadh, Fatemeh Suri, Emmanuelle Souzeau, Xue Zhang, Yongwook Dan, Evie Anagnos, Susana Carmona, Nicole M. Jody, Nickie Stangel, Emily C. Higuchi, Samuel J. Huang, Owen M. Siggs, Maria José Simões, Brendan M. Lawson, Jacob S. Martin, Elahe Elahi, Mehrnaz Narooie-Nejad, Behzad Fallahi Motlagh, Susan E. Quaggin, Heather D. Potter, Eduardo Silva, Jamie E. Craig, Conceição Egas, Reza Maroofian, Sebastian Maurer‐Stroh, Yasmin S. Bradfield, Stuart W. Tompson
Abstract
We provide further evidence for PCG caused by TEK haploinsufficiency, affirm autosomal dominant inheritance in two pedigrees, and propose SVEP1 as a modifier of TEK expression during SC development, affecting disease penetrance and severity.
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