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Article

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.

American journal of medical genetics. Part A - 1 May 2024

Makhamreh Mona M, Shivashankar Kavya, Araji Sarah, Critchlow Elizabeth, O'Brien Barbara M, Wodoslawsky Sascha, Berger Seth I, Al-Kouatly Huda B

Abstract excerpt

RASopathies are a group of malformation syndromes known to lead to nonimmune hydrops fetalis (NIHF) in severe presentations. Pathogenic variants can be de novo or parentally inherited. Despite being a known frequent presentation, the fraction of monogenic NIHF cases due to RASopathies is limited in the literature. Also, the specific parental contribution of RASopathies to NIHF is not well described. Our objective...

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PMID: 38156365
DOI: 10.1002/ajmg.a.63494

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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