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Ophthalmic Genetics Volume 36, 2015 - Issue 1
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Letter to the Journal

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Linda M. ReisDepartment of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WI, USA,
,
Rebecca C. TylerDepartment of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WI, USA,
,
Roberto ZoriDivision of Genetics and Metabolism, University of Florida, Gainesville, FL, USA, and
,
Jennifer BurgessDivision of Genetics and Metabolism, University of Florida, Gainesville, FL, USA, and
,
Jennifer MuellerDivision of Genetics and Metabolism, University of Florida, Gainesville, FL, USA, and
&
Elena V. SeminaDepartment of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WI, USA, ;Department of Cell Biology, Neurobiology and Anatomy at the Medical College of Wisconsin, Milwaukee, WI, USACorrespondence[email protected]
Pages 92-94 | Received 06 Aug 2013, Accepted 07 Aug 2013, Published online: 11 Sep 2013

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Read on this site (1)

Benjamin Katz, Jennifer Enright, Steven Couch, George Harocopos & Andrew R. Lee. (2020) Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst. Ophthalmic Genetics 41:6, pages 645-649.
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Articles from other publishers (2)

Elena Franco, Naeem Iqbal, Parth R. Shah, Michelle Alabek, Kelly S. Tripi, Christina Prescott, Hannah L. Scanga, Charleen T. Chu & Ken K. Nischal. (2022) Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series. Cornea Publish Ahead of Print.
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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. (2022) First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients . Clinical Genetics 101:5-6, pages 494-506.
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