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Article

Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.

European journal of medical genetics - 1 Feb 2021

Basel-Salmon Lina, Ruhrman-Shahar Noa, Barel Ortal, Hagari Ofir, Marek-Yagel Dina, Azulai Noy, Bazak Lily, Svirsky Ran, Reznik-Wolf Haike, Lidzbarsky Gabriel Arie, Shohat Mordechai

Abstract excerpt

The combination of congenital heart defects and vertebral anomalies with or without additional abnormalities has been reported in many genetic disorders. We describe a family in which four consecutive pregnancies were characterized by the combination of fetal congenital heart malformations and vertebral anomalies. In addition, preaxial polydactyly was detected in one of the fetuses. Reanalysis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Homeobox Protein Nkx-2.5

Share to Mutation, Missense

Share to Polydactyly

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 33359164
DOI: 10.1016/j.ejmg.2020.104124

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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