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

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

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...

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Bibliographic Details
Main Authors: Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Italian Journal of Pediatrics
Subjects:
Congenital heart diseases
Conotruncal heart defects
Facial dysmorphisms
MED12
Echocardiography
Next generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13052-020-00865-w

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http://link.springer.com/article/10.1186/s13052-020-00865-w

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