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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
Authors:KF Schilter  A Schneider  T Bardakjian  J‐F Soucy  RC Tyler  LM Reis  EV Semina
Affiliation:1. Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA;2. Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA;3. Department of Pediatrics, Division of Genetics, Albert Einstein Medical Center, Philadelphia, PA, USA;4. Medical Genetics Division, CHU Sainte‐Justine, 3175 C?te‐Sainte‐Catherine, Montréal, Québec, Canada
Abstract:
Keywords:anophthalmia  microphthalmia  OTX2  pituitary
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