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

• Main Authors: Silvia Amodeo (Author), Giuseppe Vitrano (Author), Melania Guardino (Author), Giuseppe Paci (Author), Fulvio Corselli (Author), Vincenzo Antona (Author), Giuseppe Barrano (Author), Monia Magliozzi (Author), Antonio Novelli (Author), Renato Venezia (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...