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Article

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Prenatal diagnosis - 1 Aug 2016

Duval Hélène, Michel-Calemard Laurence, Gonzales Marie, Loget Philippe, Beneteau Claire, Buenerd Annie, Joubert Madeleine, Denis-Musquer Marielee, Clemenson Alix, Chesnais Anne-Laure, Blesson Sophie, De Pinieux Isabelle, Delezoide Anne-Lise, Bonyhay Gheorghe, Bellanné-Chantelot Christine, Heidet Laurence, Dupré Florence, Collardeau-Frachon Sophie

Abstract excerpt

OBJECTIVES: To describe macroscopic and microscopic anomalies present in fetuses carrying hepatocyte nuclear factor-1 β mutation, their frequency, and genotype/phenotype correlations. METHODS: Clinical data, ultrasound findings, genetic studies, and autopsy reports of 20 fetal autopsies were analyzed. Histology was reviewed by two pathologists. RESULTS: Macroscopic findings were typically unilateral or bilateral...

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Identifiers

PMID: 27297286
DOI: 10.1002/pd.4858

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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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