Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Author:

Liu Ning1,Schoch Kelly2,Luo Xi1,Pena Loren D M2,Bhavana Venkata Hemanjani1,Kukolich Mary K3,Stringer Sarah3,Powis Zöe4ORCID,Radtke Kelly4,Mroske Cameron4,Deak Kristen L5,McDonald Marie T2,McConkie-Rosell Allyn2,Markert M Louise6,Kranz Peter G7ORCID,Stong Nicholas8,Need Anna C9,Bick David10,Amaral Michelle D10,Worthey Elizabeth A10,Levy Shawn10,Wangler Michael F11112,Bellen Hugo J111121314,Shashi Vandana2,Yamamoto Shinya1111213ORCID,

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

2. Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA

3. Department of Genetics, Cook Children’s Hospital, Fort Worth, TX, USA

4. Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA

5. Department of Pathology, Duke University, Durham, NC, USA

6. Division of Allergy and Immunology, Department of Pediatrics, Duke Health, Durham, NC, USA

7. Division of Neuroradiology, Department of Radiology, Duke Health, Durham, NC, USA

8. Institute for Genomic Medicine, Columbia University, New York, NY, USA

9. Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK

10. HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA

11. Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA

12. Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA

13. Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA

14. Howard Hughes Medical Institute, Houston, TX, USA

Funder

National Institutes of Health

NIH

Intellectual and Developmental Disabilities Research Center

Simons Foundation

Howard Hughes Medical Institute

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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