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22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1610 Consecutive Cases

BACKGROUND: The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better defin...

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Bibliografiska uppgifter
I publikationen:Pediatr Cardiol
Huvudupphovsmän: Peyvandi, Shabnam, Lupo, Philip J, Garbarini, Jennifer, Woyciechowski, Stacy, Edman, Sharon, Emanuel, Beverly S, Mitchell, Laura, Goldmuntz, Elizabeth
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4339067/
https://ncbi.nlm.nih.gov/pubmed/23604262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00246-013-0694-4
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