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Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations
Authors:Vianney Cortés‐González  Juan Carlos Zenteno  Martín Guzmán‐Sánchez  Verónica Giordano‐Herrera  Dalia Guadarrama‐Vallejo  Narlly Ruíz‐Quintero  Cristina Villanueva‐Mendoza
Affiliation:1. Department of Genetics, Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México, Mexico City, Mexico;2. Department of Biochemistry, National Autonomous University of Mexico, Mexico City, Mexico;3. Research Unit and Genetics Department, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico;4. Ophthalmology, Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México, Mexico City, Mexico;5. Department of Retina, Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México, Mexico City, Mexico;6. Department of Cornea, Hospital “Dr. Luis Sánchez Bulnes”, Asociación para Evitar la Ceguera en México, Mexico City, Mexico;7. Correspondence to:;8. Cristina Villanueva‐Mendoza, Department of Genetics, Hospital “Dr. Luis Sánchez Bulnes,” Asociación para Evitar la Ceguera en México, Vicente García Torres # 46, San Lucas Coyoacán, México, D.F. CP 04030. E‐mail:
Abstract:
Keywords:Tietz syndrome  Waardenburg syndrome type 2A  MITF  congenital deafness  posterior microphthalmos
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