Costello syndrome: Clinical phenotype, genotype, and management guidelines-Reference-Cited by-同舟云学术

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Published:2019-06-20 Issue:9 Volume:179 Page:1725-1744
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gripp Karen W.¹,Morse Lindsey A.²,Axelrad Marni³,Chatfield Kathryn C.⁴,Chidekel Aaron⁵,Dobyns William⁶^ORCID,Doyle Daniel⁷,Kerr Bronwyn⁸,Lin Angela E.⁹,Schwartz David D.³,Sibbles Barbara J.¹⁰,Siegel Dawn¹¹^ORCID,Shankar Suma P.¹²,Stevenson David A.¹³^ORCID,Thacker Mihir M.¹⁴,Weaver K. Nicole¹⁵,White Sue M.¹⁶,Rauen Katherine A.¹²^ORCID

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics; A.I. duPont Hospital for Children; Wilmington Delaware

2. Ferre Institute; Binghamton; New York New York

3. Psychology Section, Department of Pediatrics; Baylor College of Medicine; Houston Texas

4. Section of Cardiology, Department of Pediatrics; University of Colorado School of Medicine; Aurora Colorado

5. Division of Pulmonology, Department of Pediatrics; A.I. duPont Hospital for Children; Wilmington Delaware

6. Division of Medical Genetics; Seattle Children's Hospital; Seattle Washington

7. Division of Endocrinology; A.I. duPont Hospital for Children; Wilmington Delaware

8. Manchester Center for Genomic Medicine; University of Manchester; Manchester UK

9. Medical Genetics Unit, Department of Pediatrics; MassGeneral Hospital for Children; Boston Massachusetts

10. Division of Pediatrics; Erasmus MC-Sophia Children's Hospital; Rotterdam the Netherlands

11. Department of Dermatology; Medical College of Wisconsin; Milwaukee Wisconsin

12. Division of Genomic Medicine, Department of Pediatrics; University of California Davis; Sacramento California

13. Division of Medical Genetic, Department of Pediatrics; Stanford University; Palo Alto California

14. Department of Orthopedic Surgery; Nemoirs-Alfred I. duPont Hospital for Children; Wilmington Delaware

15. Division of Human Genetics; University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

16. Victorian Clinical Genetics Services; Royal Children's Hospital; Victoria Australia

Funder

Childrens Miracle Network

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61270/fullpdf

Reference127 articles.

1. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey;Abe;American Journal of Medical Genetics. Part A,2012

2. Autism traits in the RASopathies;Adviento;Journal of Medical Genetics,2014

3. Costello syndrome and hyperinsulinemic hypoglycemia;Alexander;American Journal of Medical Genetics. Part A,2005

4. Behavioral profile in RASopathies;Alfieri;American Journal of Medical Genetics. Part A,2014

Cited by 70 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mosaic RASopathies concept: different skin lesions, same systemic manifestations?;Journal of Medical Genetics;2024-01-30

2. Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy;ESC Heart Failure;2024-01-13

3. Common Monogenetic Conditions in Newborns;Principles of Neonatology;2024

4. Case Report: Unusual pulmonary involvement in a patient with Costello syndrome;F1000Research;2023-12-29

5. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing;Psychiatry Research Case Reports;2023-12