Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference11 articles.
1. Thoraco-Abdominal abnormalities in Bardet-Biedl syndrome: stus inversus and heterotaxy;Olson;J Pediatr,2019
2. The atrioventricular canal defect is the congenital heart disease connecting short-rib polydactyly and oral-facial-digital syndromes;Digilio;Am J Med Genet,1997
3. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation;Digilio;Am J Med Genet,1999
4. Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction;Digilio;Genet Med,2006
5. Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog;Digilio;Clin Genet,2019
Cited by 4 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. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook;Therapeutics and Clinical Risk Management;2023-01
2. Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”;Annals of Human Genetics;2021-04-05
3. Atrioventricular canal defect is the classic congenital heart disease in Bardet–Biedl syndrome;Annals of Human Genetics;2021-01-12
4. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene;Human Mutation;2020-10-14
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