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The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey
Authors:Benjamin M. Helm  Zoe Powis  Carlos E. Prada  Olga L. Casasbuenas‐Alarcon  Tonya Balmakund  G. B. Schaefer  Stephen G. Kahler  Julie Kaylor  Susan Winter  Yuri A. Zarate  Samantha A. Schrier Vergano
Affiliation:1. Department of Medical and Molecular Genetics, Indiana University School of Medicine and Riley Hospital for Children at IU Health, Indianapolis, Indiana;2. Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, California;3. Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio;4. Centro de Medicina Genomica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia;5. Servicio de Neurología Pediatrica, Clinica Reina Sofía, Bogota, Colombia;6. Division of Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas;7. Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas;8. Arkansas Children's Hospital, Little Rock, Arkansas;9. Valley Children's Hospital, Department of Genetic Medicine and Metabolism, Madera, California;10. Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia;11. Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia
Abstract:
Keywords:exome  IQSEC2  microcephaly  seizures  X‐linked intellectual disability
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