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Article

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human molecular genetics - 15 Jun 2014

Carss Keren J, Hillman Sarah C, Parthiban Vijaya, McMullan Dominic J, Maher Eamonn R, Kilby Mark D, Hurles Matthew E

Abstract excerpt

The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. We propose that exome sequencing may substantially increase the identification of underlying etiologies. We performed...

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Identifiers

PMID: 24476948
DOI: 10.1093/hmg/ddu038
PMCID: PMC4030780

Genes

FGFR3

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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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