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Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly,blindness, and early onset seizures
Authors:Almundher Al‐Maawali  Brenda J. Barry  Anna Rajab  Malak El‐Quessny  Ann Seman  Stephanie Newton Coury  A. James Barkovich  Edward Yang  Christopher A. Walsh  Ganeshwaran H. Mochida  Joan M. Stoler
Affiliation:1. Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts;2. Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts;3. Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts;4. Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman;5. National Genetics Center, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman;6. Department of Radiology and Biomedical Imaging, University of California, San Francisco, California;7. Department of Radiology, Boston Children's Hospital, Boston, Massachusetts;8. Department of Radiology, Harvard Medical School, Boston, Massachusetts;9. Department of Pediatrics, Harvard Medical School, Boston, Massachusetts;10. Department of Neurology, Harvard Medical School, Boston, Massachusetts;11. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts;12. Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts;13. Correspondence to:;14. Dr. Joan M. Stoler, Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, 300 Longwood Ave, Hunnewell 536, Boston MA 02115.;15. E‐mail:;16. Dr. Ganeshwaran H. Mochida, Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, 300 Longwood Ave, CLS 15070.1, Mail Stop: BCH3150 Boston, MA 02115.;17. E‐mail:
Abstract:
Keywords:DIAPH1  microcephaly  blindness  seizures  intellectual disability  deafness
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