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Article

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.

Prenatal diagnosis - 1 May 2022

Lamouroux Audrey, Dauge Coralie, Wells Constance, Mousty Eve, Pinson Lucile, Cavé Hélène, Capri Yline, Faure Jean-Michel, Grosjean Frédéric, Sauvestre Fanny, Attié-Bitach Tania, Pelluard Fanny, Geneviève David

Abstract excerpt

OBJECTIVES: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization. METHODS: This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016. RESULTS: Among 12 pathogenic variants (PV) in PTPN11 (80%), 5 (42%) fell between position c.179 and c.182. Ultrasound showed increased nuchal...

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PMID: 35278234
DOI: 10.1002/pd.6133

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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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