A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds-Reference-Cited by-同舟云学术

A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

Published:2020-03-07 Issue:5 Volume:182 Page:987-993
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Marek‐Yagel Dina¹²,Bolkier Yoav²³,Barel Ortal⁴,Vardi Amir²⁵,Mishali David²⁵,Katz Uriel²³,Salem Yishay²³,Abudi Shachar¹²,Nayshool Omri⁴,Kol Nitzan⁴,Raas‐Rothschild Annick²⁶,Rechavi Gideon²⁴⁷,Anikster Yair¹²⁷,Pode‐Shakked Ben¹²⁸^ORCID

Affiliation:

1. Metabolic Disease UnitEdmond and Lily Safra Children's Hospital, Sheba Medical Center Tel‐Hashomer Israel

2. Sackler Faculty of MedicineTel‐Aviv University Tel‐Aviv Israel

3. Pediatric Cardiology UnitEdmond and Lily Safra Children's Hospital, Sheba Medical Center Tel‐Hashomer Israel

4. Sheba Cancer Research Center, Sheba Medical Center Tel‐Hashomer Israel

5. Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart CenterEdmond and Lily Safra Children's Hospital, Sheba Medical Center Tel‐Hashomer Israel

6. The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel‐Hashomer Israel

7. The Wohl Institute for Translational Medicine, Sheba Medical Center Tel‐Hashomer Israel

8. Talpiot Medical Leadership ProgramSheba Medical Center Tel‐Hashomer Israel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61509

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1. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

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