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Article

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018

Boissel Sarah, Fallet-Bianco Catherine, Chitayat David, Kremer Valérie, Nassif Christina, Rypens Françoise, Delrue Marie-Ange, Dal Soglio Dorothée, Oligny Luc L, Patey Natalie, Flori Elisabeth, Cloutier Mireille, Dyment David, Campeau Philippe, Karalis Aspasia, Nizard Sonia, Fraser William D, Audibert François, Lemyre Emmanuelle, Rouleau Guy A, Hamdan Fadi F, Kibar Zoha, Michaud Jacques L

Abstract excerpt

PURPOSE: Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. METHODS: We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29261186
DOI: 10.1038/gim.2017.173

Genes

ACTB
DSTYK
HIVEP2
MNX1
RYR1
TUBB

Provenance

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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