Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference9 articles.
1. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome;Pié;Am J Med Genet A.,2010
2. Clinical utility gene card for: Cornelia de Lange syndrome;Ramos;Eur J Hum Genet.,2015
3. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature;Schrier;Am J Med Genet A,2011
4. Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis;Chatfield;Am J Med Genet A,2012
5. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome;Selicorni;Am J Med Genet A,2009
Cited by 14 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. SMC3 contributes to heart development by regulating super-enhancer associated genes;Experimental & Molecular Medicine;2024-08-01
2. Espectro Cornelia de Lange;Anales de Pediatría;2024-05
3. Cornelia de Lange Spectrum;Anales de Pediatría (English Edition);2024-05
4. Cornelia De Lange Syndrome with left heart hypoplasia: a case study;Journal of Emergency Medicine Case Reports;2024-03-29
5. Gastrulation-stage gene expression in Nipbl +/− mouse embryos foreshadows the development of syndromic birth defects;Science Advances;2024-03-22
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