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Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome
Authors:Ekim Z. Taskiran  Beren Karaosmanoglu  Can Koşukcu  Özlem A. Doğan  Hande Taylan‐Şekeroğlu  Pelin Ö. Şimşek‐Kiper  Eda G. Utine  Koray Boduroğlu  Mehmet Alikaşifoğlu
Affiliation:1. Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey;2. Department of Stem Cell Sciences, Hacettepe University, Institute of Health Sciences, Ankara, Turkey;3. Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey;4. Faculty of Medicine, Department of Ophthalmology, Hacettepe University, Ankara, Turkey
Abstract:
Keywords:CDH11  Elsahy–  Waters syndrome  exome sequencing  osteo‐cadherin
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