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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Ital J Pediatr
Κύριοι συγγραφείς: Amodeo, Silvia, Vitrano, Giuseppe, Guardino, Melania, Paci, Giuseppe, Corselli, Fulvio, Antona, Vincenzo, Barrano, Giuseppe, Magliozzi, Monia, Novelli, Antonio, Venezia, Renato, Corsello, Giovanni
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2020
Θέματα:
Case Report
Διαθέσιμο Online: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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