Gain‐of‐function pathogenic variants inSMAD4are associated with neoplasia in Myhre syndrome-Reference-Cited by-同舟云学术

Gain‐of‐function pathogenic variants inSMAD4are associated with neoplasia in Myhre syndrome

Published:2019-12-14 Issue:2 Volume:182 Page:328-337
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lin Angela E.¹^ORCID,Alali Abdulrazak²³,Starr Lois J.⁴^ORCID,Shah Nidhi⁵,Beavis Anna⁶,Pereira Elaine M.²⁷,Lindsay Mark E.⁸,Klugman Susan⁹

Affiliation:

1. Medical Genetics Unit, MassGeneral Hospital for Children Boston Massachusetts

2. Division of Pediatric Genetics, Department of Pediatrics, Montefiore Medical CenterAlbert Einstein College of Medicine Bronx New York

3. Division of Genetics, Department of PediatricsAkron Children's Hospital Akron Ohio

4. Munroe‐Meyer Institute, University of Nebraska Medical Center Omaha Nebraska

5. Harvard Medical School Genetics Training Program Boston Massachusetts

6. Department of Gynecology and ObstetricsJohns Hopkins University Baltimore Maryland

7. Division of Clinical Genetics, Department of PediatricsColumbia University Medical Center New York New York

8. Thoracic Aortic and Cardiovascular Genetics CentersMassachusetts General Hospital Boston Massachusetts

9. Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical CenterAlbert Einstein College of Medicine Bronx New York

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61430

Reference33 articles.

1. Practice Bulletin No. 149

2. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

3. Committee Opinion No. 557

4. Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer

5. Severe constipation in a patient with Myhre syndrome

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