Case Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot

We identified a novel heterozygous missense variant of <i>FGD5</i> in a Chinese family with TOF, which expands the genetic spectrum of the disease.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-10-22
DOI
https://doi.org/10.3389/fgene.2025.1663959
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00

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article

Case Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot

Rong Xiang, Meng-Wei Liu, Yi Dong, Liping Wu
Frontiers in Genetics
Congenital heart defects research
article

Case Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot

Rong Xiang, Meng-Wei Liu, Yi Dong, Liping Wu
article en

Abstract

We identified a novel heterozygous missense variant of <i>FGD5</i> in a Chinese family with TOF, which expands the genetic spectrum of the disease.

Frontiers in GeneticsVol. 16
Central South University (CN), Xinjiang Medical University (CN), Shenzhen Maternity and Child Healthcare Hospital (CN)
National Natural Science Foundation of China
Openalex Percentile: Top 73%
Congenital heart defects research
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