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Clinical Genetics (M.D.) Physician in Saint Louis, MO
NPI: 1295180867Primary Practice Location
ST LOUIS CHILDRENS HOSPITAL
1 Childrens Pl, Saint Louis, MO
Primary Employer
Washington University School of Medicine
surgery.wustl.edu
HQ Phone
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Near complete deletion of KMT2D in a college student.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Authors: Katherine Donohue, Catherine Gooch, Alexander Katz, Jessica Wakelee, Anne Slavotinek, Bruce Korf
Publication Date: 2020-10-07