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Article

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

American journal of medical genetics. Part A - 1 Nov 2020

Adam Aaron P, Curry Cynthia J, Hall Judith G, Keppler-Noreuil Kim M, Adam Margaret P, Dobyns William B

Abstract excerpt

Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a...

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PMID: 32924308
DOI: 10.1002/ajmg.a.61847

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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