Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for <scp> <i>SMAD4</i> </scp> in human neural crest defects-Reference-Cited by-同舟云学术

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Published:2022-01-13 Issue:5 Volume:188 Page:1384-1395
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:

Cappuccio Gerarda¹²^ORCID,Brunetti‐Pierri Nicola¹²^ORCID,Clift Paul³,Learn Christopher⁴,Dykes John C.⁵,Mercer Catherine L.⁶,Callewaert Bert⁷⁸^ORCID,Meerschaut Ilse⁸⁹^ORCID,Spinelli Alessandro Mauro¹⁰^ORCID,Bruno Irene¹⁰,Gillespie Matthew J.¹¹,Dorfman Aaron T.¹¹,Grimberg Adda¹²¹³,Lindsay Mark E.¹⁴¹⁵,Lin Angela E.¹⁶^ORCID

Affiliation:

1. Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy

2. Telethon Institute of Genetics and Medicine Pozzuoli (Naples) Italy

3. Adult Congenital Heart Disease Unit University Hospitals Birmingham Birmingham UK

4. Adult Congenital Heart Disease Program, Department of Medicine Massachusetts General Hospital Boston Massachusetts USA

5. Departments of Pediatrics Stanford California USA

6. Wessex Clinical Genetics Service University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital Southampton UK

7. Department of Biomolecular Medicine Ghent University Ghent Belgium

8. Center for Medical Genetics Ghent University Hospital Ghent Belgium

9. Department of Pediatrics Ghent University Hospital Ghent Belgium

10. Institute for Maternal and Child Health, IRCCS Burlo Garofolo Trieste Italy

11. Division of Cardiology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

12. Department of Pediatrics Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

13. Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

14. Department of Pediatrics, Division of Pediatric Cardiology Massachusetts General Hospital Boston Massachusetts USA

15. Cardiovascular Research Center, Division of Cardiology Massachusetts General Hospital Boston Massachusetts USA

16. Genetics Unit, Department of Pediatrics MassGeneral Hospital for Children Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62645

Reference39 articles.

1. Relationship between neural crest cell specification and rare ocular diseases

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

3. Iris Sector Heterochromia as a Marker for Neural Crest Disease

4. A pilot clinical trial with losartan in Myhre syndrome

5. A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

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