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Article

Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.

Prenatal diagnosis - 1 Feb 2024

Tse Wing Ting, Cao Ye, Lam Pensi Ping Hei, Law Kwok Ming, Choy Kwong Wai, Ting Yuen Ha

Abstract excerpt

We report a fetus with prenatal ultrasound at 21 gestational weeks showing left cystic renal dysplasia with subcapsular cysts and echogenic parenchyma, right echogenic kidney with absent corticomedullary differentiation, and left congenital diaphragmatic hernia (CDH) with bowel herniation, with intestinal atresia (IA) found on postmortem examination. Whole genome sequencing of fetal blood DNA revealed a...

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Source

Identifiers

PMID: 38141042
DOI: 10.1002/pd.6501

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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