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Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Prenatal diagnosis - 1 Aug 2024

Favier Maud, Dard Rodolph, Gorincour Guillaume, Tessier Aude, Motte-Signoret Emmanuelle, Duvillier Clemence, Racine Caroline, Faivre Laurence, Thauvin-Robinet Christel, Mau-Them Frédéric Tran

Abstract excerpt

BACKGROUND: Exome sequencing in prenatal context confronts with pathogenic variants associated with phenotypes that are not detectable prenatally. MATERIALS AND METHODS: A consanguineous couple was referred at 24 weeks of gestation for prenatal genetic investigations after ultrasonography findings including decreased fetal movements, hypoplastic male external genitalia, retrognathia, prefrontal edema, anomalies...

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PMID: 38923535
DOI: 10.1002/pd.6629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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