<i>TGFBR1</i> Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy

<i>TGFBR1</i> Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy

Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe...

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Bibliographic Details
Main Authors: Manal Alaamery, Nour Albesher, Fahad Alhabshan, Phil Barnett, Mohamed Salim Kabbani, Farah Chaikhouni, Aho Ilgun, Olaf R. F. Mook, Hessa Alsaif, Vincent M. Christoffels, Peter van Tintelen, Arthur A. M. Wilde, Arjan C. Houweling, Salam Massadeh, Alex V. Postma
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Journal of Cardiovascular Development and Disease
Subjects:
congenital heart defect
TGFBR1
whole-exome sequencing
gain of function
TGFbeta-smad signaling
Online Access:https://www.mdpi.com/2308-3425/10/11/455

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https://www.mdpi.com/2308-3425/10/11/455

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