Zobrazeno 1 - 4
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pro vyhledávání: '"Cécile Lesage"'
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Autor:
Bertrand Chesneau, Marion Aubert‐Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares‐Taie, Jean‐Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie‐Bitach, Cécile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent‐Delorme, Odile Boute, Clémence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton‐Pérez, Laurence Bouneau, Cédric Le Caignec, Véronique Gaston, Claire Jeanton‐Scaramouche, Delphine Dupin‐Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
International audience; Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8f228d182dcdaf9574a488ec5c1bc7
https://doi.org/10.1111/cge.14123
https://doi.org/10.1111/cge.14123
Autor:
C. Debuisson, Christine Pajot, Cécile Lesage Beaudon, E. Grouteau, Karine Brochard, Soizic Paranon, Isabelle Claudet
Publikováno v:
European Journal of Ophthalmology
European Journal of Ophthalmology, Wichtig Editore, 2018, 21 (1), pp.112-114
European Journal of Ophthalmology, Wichtig Editore, 2018, 21 (1), pp.112-114
Purpose Pediatric Kawasaki ocular involvement is dominated by bulbar conjunctival injection and mild, self-limited anterior uveitis. Posterior segment involvement is rare. Methods/Results Case report. Despite early efficient treatment including aspir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::370333f9d4619e28f36ea7a1b038114b
https://doi.org/10.5301/ejo.2010.606
https://doi.org/10.5301/ejo.2010.606
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 10:69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f31a5936d90203ee2abc27e56c0d84b3
https://doi.org/10.1016/j.jaapos.2006.01.076
https://doi.org/10.1016/j.jaapos.2006.01.076
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