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MED23‐associated intellectual disability in a non‐consanguineous family
Authors:Aditi Trehan  Jacqueline M. Brady  Valerie Maduro  William P. Bone  Yan Huang  Gretchen A. Golas  Megan S. Kane  Paul R. Lee  Audrey Thurm  Andrea L. Gropman  Scott M. Paul  Gilbert Vezina  Thomas C. Markello  William A. Gahl  Cornelius F. Boerkoel  Cynthia J. Tifft
Affiliation:1. Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland;2. NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland;3. National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland;4. Pediatrics and Developmental Neuroscience, NIMH/NIH, Bethesda, Maryland;5. George Washington University School of Medicine and Health Sciences, Children's National Medical Center, Washington, District of Columbia;6. Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, Maryland
Abstract:
Keywords:intellectual disability (ID)  MED23  mediator complex  whole exome sequencing (WES)
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