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Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis
Congenital heart disease (CHD) has been reported to occur in 14–70% of individuals with Cornelia de Lange syndrome (CdLS, OMIM 122470) and accounts for significant morbidity and mortality when present. Charts from a cohort of 479 patients with CdLS were reviewed for cardiac evaluations, gene testing...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3551981/ https://ncbi.nlm.nih.gov/pubmed/22965847 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35582 |
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