NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus-Reference-Cited by-同舟云学术

NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus

Published:2020-03-21 Issue:6 Volume:182 Page:1454-1459
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ritter Alyssa¹²^ORCID,Werner Petra²,Latney Brande²,Krock Bryon L.³⁴,Santani Avni⁵,Bedoukian Emma¹⁶^ORCID,Skraban Cara M.¹⁶^ORCID,Deardorff Matthew A.¹⁶,Goldmuntz Elizabeth²^ORCID

Affiliation:

1. Division of Human Genetics, Department of PediatricsChildren's Hospital of Philadelphia Pennsylvania USA

2. Divison of Cardiology, Children's Hospital of Philadelphia, Department of PediatricsPerelman School of Medicine at the University of Pennsylvania Pennsylvania USA

3. ARUP Institute for Clinical and Experimental Pathology®, ARUP Laboratories Salt Lake City Utah USA

4. University of Utah School of MedicineDepartment of Pathology Salt Lake City Utah USA

5. Division of Molecular Diagnostics, Department of Pathology and Laboratory MedicineChildren's Hospital of Philadelphia Pennsylvania USA

6. The Roberts Individualized Medical Genetics CenterChildren's Hospital of Philadelphia Pennsylvania USA

Funder

National Center for Advancing Translational Sciences

National Center for Research Resources

National Heart, Lung, and Blood Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61550

Reference22 articles.

1. Familial Truncus Arteriosus: A Possible Autosomal-Recessive Trait

2. A method and server for predicting damaging missense mutations

3. Genetics and Genetic Testing in Congenital Heart Disease

4. Surprising similarities in structure comparison

5. Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

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1. Genetics and etiology of congenital heart disease;Current Topics in Developmental Biology;2024

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