Expanding <scp> <i>ACTA2</i> </scp> genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome-Reference-Cited by-同舟云学术

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Published:2022-05-14 Issue:8 Volume:188 Page:2389-2396
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Kaw Anita¹^ORCID,Kaw Kaveeta¹,Hostetler Ellen M.¹,Beleza‐Meireles Ana²,Smith‐Collins Adam³,Armstrong Catherine⁴,Scurr Ingrid²,Cotts Timothy⁵,Aatre Rajani⁶,Bamshad Michael J.⁷,Earl Dawn⁷,Groner Abraham⁸,Agre Katherine⁹,Raveh Yehuda¹⁰^ORCID,Kwartler Callie S.¹^ORCID,Milewicz Dianna M.¹^ORCID

Affiliation:

1. Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA

2. Bristol Regional Clinical Genetics Service St Michael's Hospital Bristol UK

3. Regional Neonatal Intensive Care Unit St Michael's Hospital Bristol UK

4. Bristol Royal Hospital for Children Bristol UK

5. Division of Pediatric Cardiology, Department of Pediatrics, Michigan Medicine University of Michigan at Ann Arbor Ann Arbor Michigan USA

6. Franklin Cardiovascular Center, Department of Internal Medicine, Michigan Medicine University of Michigan at Ann Arbor Ann Arbor Michigan USA

7. Division of Medical Genetics, Department of Pediatrics University of Washington Seattle Washington USA

8. Division of Cardiology, Department of Pediatrics The University of Chicago Chicago Illinois USA

9. Invitae San Francisco California USA

10. Department of Anesthesia University of Miami/Jackson Memorial Hospital Miami Florida USA

Funder

American Heart Association

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62775

Reference27 articles.

1. Cerebral arteriopathy associated with Arg179His ACTA2 mutation

2. A dyadic approach to the delineation of diagnostic entities in clinical genomics

3. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

4. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

5. The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease

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1. A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection;Neurological Research and Practice;2023-08-17

2. Association of gene polymorphisms in ACTA2, MYH11, FBN1 and TGF-β signaling with the susceptibility of DeBakey type III aortic dissection;2023-05-23

3. Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature;American Journal of Medical Genetics Part A;2023-01-06

4. Why Would a Child Have a Stroke?;Journal of Child Neurology;2022-10-09