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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic,Ocular, and Cardiac Abnormalities
Affiliation:1. Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA;2. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;3. Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;4. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;5. Seattle Children’s Hospital, Seattle, WA 98105, USA;6. Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA;7. Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73104, USA;8. Department of Clinical Genetics, Odense University Hospital, Denmark;9. Hans Christian Andersen Children’s Hospital, Odense University Hospital, Denmark;10. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands;11. The Committee for Prevention of Jewish Genetic Diseases, Dor Yeshorim, Jerusalem, Israel
Abstract:
Keywords:nucleoporin  NUP188  dendritic arborization  negative geotaxis  nuclear pore complex  Ashkenazi Jewish  congenital cataracts  microcephaly  congenital heart defects  autosomal recessive
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