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Homozygous XYLT2 variants as a cause of spondyloocular syndrome
Authors:M Umair  G Eckstein  G Rudolph  T Strom  E Graf  D Hendig  J Hoover  J Alanay  T Meitinger  H Schmidt  W Ahmad
Institution:1. Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany;2. Institute of Human Genetics, Technische Universitat, Munchen, Germany;3. Department of Biochemistry, Faculty of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan;4. University Eye Hospital, Ludwig Maximilians University, Munich, Germany;5. Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine‐Westphalia, University Hospital of the Ruhr University, Ruhr, Germany;6. University Children's Hospital, Division of Endocrinology and Diabetology, Munich, Germany
Abstract:
Keywords:missense variants  skeletal dysplasia  SOS  spondyloocular syndrome  WES  XYLT2
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