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Article

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Clinical genetics - 1 Apr 2018

Rasmussen M, Sunde L, Nielsen M L, Ramsing M, Petersen A, Hjortshøj T D, Olsen T E, Tabor A, Hertz J M, Johnsen I, Sperling L, Petersen O B, Jensen U B, Møller F G, Petersen M B, Lildballe D L

Abstract excerpt

Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29194579
DOI: 10.1111/cge.13185

Genes

ROBO1
TMEM67

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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