A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

Abstract Background Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the heart and great vessels. CHD complications such as low birth weight, prematurity, pregnancy termination, mortality, and morbidity depend on the type of defect....

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Bibliographic Details
Main Authors: Avisa Tabib, Taravat Talebi, Serwa Ghasemi, Maryam Pourirahim, Niloofar Naderi, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2022-12-01
Series:European Journal of Medical Research
Subjects:
Congenital heart defect
CHDs
Whole-exome sequencing
FLT4
PTPN11
VEGFR3
Online Access:https://doi.org/10.1186/s40001-022-00920-8

Internet

https://doi.org/10.1186/s40001-022-00920-8

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