The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome-Reference-Cited by-同舟云学术

The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome

Published:2020-07-19 Issue:10 Volume:41 Page:1738-1744
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Chun‐An¹²,Crutcher Emeline¹²³,Gill Harinder⁴⁵,Nelson Tanya N.⁴⁶⁷,Robak Laurie A.¹,Jongmans Marjolijn C. J.⁸,Pfundt Rolph⁸,Prasad Chitra⁹¹⁰,Berard Roberta A.⁹¹⁰¹¹,Fannemel Madeleine¹²,Frengen Eirik¹³,Misceo Doriana¹³,Ramsey Keri¹⁴,Yang Yaping¹¹⁵¹⁶,Schaaf Christian P.¹²¹⁷,Wang Xia¹¹⁵¹⁶^ORCID, ,

Affiliation:

1. Department of Human and Molecular Genetics Baylor College of Medicine Houston Texas

2. Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas

3. Development, Disease Models, and Therapeutics Graduate Program Baylor College of Medicine Houston Texas

4. Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada

5. Provincial Medical Genetics Program BC Women's Hospital and Health Centre Vancouver British Columbia Canada

6. Department of Pathology and Laboratory Medicine BC Children's Hospital Vancouver British Columbia Canada

7. Department of Pathology and Laboratory Medicine University of British Columbia Vancouver British Columbia Canada

8. Department of Human Genetics Radboud University Medical Center and Radboud Institute for Molecular Life Sciences Nijmegen The Netherlands

9. Genetics and Development Children's Health Research Institute London Ontario Canada

10. Department of Pediatrics, Schulich School of Medicine and Dentistry Western University London Ontario Canada

11. Division of Rheumatology Children's Hospital London Ontario Canada

12. Department of Medical Genetics Rikshospitalet, Oslo University Hospital Oslo Norway

13. Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway

14. Center for Rare Childhood Disorders Translational Genomics Research Institute Phoenix Arizona

15. Baylor Genetics Houston Texas

16. AiLife Diagnostics Pearland Texas

17. Institute of Human Genetics Heidelberg University Heidelberg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24075

Reference10 articles.

1. Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome

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5. Growth references for 0–19 year-old Norwegian children for length/height, weight, body mass index and head circumference

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