Mutations in TKT Are the Cause of a Syndrome Including Short Stature,Developmental Delay,and Congenital Heart Defects |
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| Authors: | Lia Boyle,Mirjam M.C. Wamelink,Gajja S. Salomons,Birthe Roos,Ana Pop,Andrew Dauber,Vivian Hwa,Melissa Andrew,Jessica Douglas,Murray Feingold,Nancy Kramer,Sulagna Saitta,Kyle Retterer,Megan T. Cho,Amber Begtrup,Kristin G. Monaghan,Julia Wynn,Wendy K. Chung |
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| Affiliation: | 1 College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA;2 Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands;3 Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA;4 Division of Genetics, Boston Children’s Hospital, Boston, MA 02115, USA;5 Department of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA;6 GeneDx, Gaithersburg, MD 20877, USA;7 Department of Pediatrics, Columbia University, New York, NY 10032, USA;8 Department of Medicine, Columbia University, New York, NY 10032, USA |
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| Abstract: | |
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| Keywords: | transketolase deficiency TKT pentose phosphate pathway congenital heart disease neurodevelopmental disability |
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