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收藏SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital GlaucomaSVEP1作为TEK相关原发性先天性青光眼的遗传修饰因子
Young, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, Fatemeh; Souzeau, Emmanuelle; Zhang, Xue; Dan, Yongwook; Anagnos, Evie; Carmona, Susana; Jody, Nicole M.; Stangel, Nickie; Higuchi, Emily C.; Huang, Samuel J.; Siggs, Owen M.; Simoes, Maria Jose; Lawson, Brendan M.; Martin, Jacob S.; Elahi, Elahe; Narooie-Nejad, Mehrnaz; Motlagh, Behzad Fallahi; Quaggin, Susan E.; Potter, Heather D.; Silva, Eduardo D.; Craig, Jamie E.; Egas, Conceicao; Maroofian, Reza; Maurer-Stroh, Sebastian; Bradfield, Yasmin S.; Tompson, Stuart W.
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收藏The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
Peter, Virginie G.; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B.; Di Gioia, Silvio Alessandro; Soares, Gabriela; Leal, Gabriela Ferraz; Silva, Eduardo D.; Gobert, Rosanna Pescini; Miyake, Noriko; Matsumoto, Naomichi; Engle, Elizabeth C.; Unger, Sheila; Shapiro, Frederic; Superti-Furga, Andrea; Rivolta, Carlo; Campos-Xavier, Belinda
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收藏ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
Fares-Taie, Lucas; Gerber, Sylvie; Chassaing, Nicolas; Clayton-Smith, Jill; Hanein, Sylvain; Silva, Eduardo; Serey, Margaux; Serre, Valerie; Gerard, Xavier; Baumann, Clarisse; Plessis, Ghislaine; Demeer, Benedicte; Bretillon, Lionel; Bole, Christine; Nitschke, Patrick; Munnich, Arnold; Lyonnet, Stanislas; Calvas, Patrick; Kaplan, Josseline; Ragge, Nicola; Rozet, Jean-Michel
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收藏Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Perrault, Isabelle; Hanein, Sylvain; Zanlonghi, Xavier; Serre, Valerie; Nicouleau, Michael; Defoort-Delhemmes, Sabine; Delphin, Nathalie; Fares-Taie, Lucas; Gerber, Sylvie; Xerri, Olivia; Edelson, Catherine; Goldenberg, Alice; Duncombe, Alice; Le Meur, Gylene; Hamel, Christian; Silva, Eduardo; Nitschke, Patrick; Calvas, Patrick; Munnich, Arnold; Roche, Olivier; Dollfus, Helene; Kaplan, Josseline; Rozet, Jean-Michel
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收藏ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
Prasov, Lev; Masud, Tehmina; Khaliq, Shagufta; Mehdi, S. Qasim; Abid, Aiysha; Oliver, Edward R.; Silva, Eduardo D.; Lewanda, Amy; Brodsky, Michael C.; Borchert, Mark; Kelberman, Daniel; Sowden, Jane C.; Dattani, Mehul T.; Glaser, Tom
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