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...
Saved in:
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: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Fitz-hugh-curtis syndrome secondary to postpartum endometritis: Case Report and literature review
by: Silvia Amodeo, et al.
Published: (2021) -
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
by: Carolina Putotto, et al.
Published: (2022) -
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
by: Lofland Gary K, et al.
Published: (2011) -
Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
by: Xu Mengmeng, et al.
Published: (2020) -
Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects
by: Subhrajit Lahiri, et al.
Published: (2020)