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Article

Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.

Gene - 30 Jan 2023

Alrayes Nuha, Mallah Bayan A, Issa Noha M, Banaganapalli Babajan, Ahmad Shaik Noor, Nasser Khalidah K, Alshehri Bandar Ali, Bhuiyan Zahurul A, Bdier Amnah Y, Al-Aama Jumana Y

Abstract excerpt

BACKGROUND: Tetralogy of Fallot (TOF) is a rare, complex congenital heart defect caused by genetic and environmental interactions that results in abnormal heart development during the early stages of pregnancy. Genetic basis of TOF in Saudi populations is not yet studied. Therefore, the objective of this study is to screen for the molecular defects causing TOF in Saudi patients. METHODS: A family with...

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PMID: 36162527
DOI: 10.1016/j.gene.2022.146909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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