Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized that similar genetic variants, developmental pathways and biological functions, contribute to disease risk for CTRD in patients without a 22q11.2 deletion (ND-CTRD) and with...

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Detalhes bibliográficos
Publicado no:Birth Defects Res
Main Authors: Xie, Hongbo M., Taylor, Deanne M., Zhang, Zhe, McDonald-McGinn, Donna M., Zackai, Elaine H., Stambolian, Dwight, Hakonarson, Hakon, Morrow, Bernice E., Emanuel, Beverly S., Goldmuntz, Elizabeth
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7398559/
https://ncbi.nlm.nih.gov/pubmed/31222980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdr2.1534
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