What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

BACKGROUND: Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the h...

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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Amodeo, Silvia, Vitrano, Giuseppe, Guardino, Melania, Paci, Giuseppe, Corselli, Fulvio, Antona, Vincenzo, Barrano, Giuseppe, Magliozzi, Monia, Novelli, Antonio, Venezia, Renato, Corsello, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7368728/
https://ncbi.nlm.nih.gov/pubmed/32682435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00865-w
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