Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals-Reference-Cited by-同舟云学术

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Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals

Published:2015-10-15 Issue:2 Volume:170 Page:482-486
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ryan Kaitlin M.¹,Ellis Alexander R.¹²,Raafat Reem¹³,Bhoj Elizabeth J.⁴,Hakonarson Hakon⁵,Li Dong⁵,Schrier Vergano Samantha¹⁶

Affiliation:

1. Department of Pediatrics; Eastern Virginia Medical School; Norfolk Virginia

2. Division of Cardiology; Children's Hospital of The King's Daughters; Norfolk Virginia

3. Division of Nephrology; Children's Hospital of The King's Daughters; Norfolk Virginia

4. Department of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

5. Center for Applied Genomics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

6. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters; Norfolk Virginia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37438/fullpdf

Reference13 articles.

1. Hardikar syndrome: A new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis;Cools;Am J Med Genet,1997

2. Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene;Cui;Gastroenterology,2013

3. Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome;Hardikar;Am J Med Genet,1992

4. Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development;High;Proc Natl Acad Sci USA,2007

5. Ciliopathies;Hildebrandt;N Engl J Med,2011

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1. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females;Genetics in Medicine;2021-04

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