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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ital J Pediatr
Prif Awduron: Amodeo, Silvia, Vitrano, Giuseppe, Guardino, Melania, Paci, Giuseppe, Corselli, Fulvio, Antona, Vincenzo, Barrano, Giuseppe, Magliozzi, Monia, Novelli, Antonio, Venezia, Renato, Corsello, Giovanni
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2020
Pynciau:
Case Report
Mynediad Ar-lein: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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