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Article

A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review.

Birth defects research - 1 Dec 2025

Fan Jiaqi, Sun Hairui, Jiang Huan, Zhang Siyao, Xia Hongmei, He Yihua

Abstract excerpt

BACKGROUND: Pathogenic variants in the SETD5 gene cause autosomal dominant intellectual developmental disorder 23. The limited number of published clinical case reports has hindered a comprehensive understanding of the associated phenotypic spectrum and mutational landscape. METHODS: We report a fetal case identified by cardiac ultrasound with an ostium primum atrial septal defect and a suspected high ventricular...

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Source

Identifiers

PMID: 41368699
DOI: 10.1002/bdr2.70003

Genes

SETD5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review.PMID 41368699Read ↗

First diagnosis of fetal SETD5 mutation during pregnancy，demonstrating an association with congenital heart diseaseSemantic proximity Read ↗

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