Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies-Reference-Cited by-同舟云学术

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies

Published:2012-11 Issue:11 Volume:55 Page:605-610
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Karp Natalya,Grosse-Wortmann Lars,Bowdin Sarah

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference58 articles.

1. Joubert syndrome and related disorders;Brancati;Orphanet J. Rare Dis.,2010

2. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation;Maria;J. Child. Neurol.,1997

3. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur. J. Med. Genet.,2008

4. Clinical and molecular features of Joubert syndrome and related disorders;Parisi;Am. J. Med. Genet. C Semin. Med. Genet.,2009

5. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics;Dafinger;J. Clin. Invest.,2011

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