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Article

Double somatic mosaicism in Cornelia de Lange syndrome.

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

Pezzani Lidia, Pezzoli Laura, Rosina Erica, Scatigno Agnese, Cereda Anna, Lucca Camilla, Bellini Matteo, Marchetti Daniela, Maino Marzia, Mangili Giovanna, Selicorni Angelo, Iascone Maria

Abstract excerpt

Post-zygotic mosaicism is a well-known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post-zygotic de novo mutational events. It has been identified in about 13% of Cornelia de Lange (CdLS) syndrome patients with a molecular diagnosis, an unusual high frequency. Here, we report the case of a patient affected by classic CdLS harboring...

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PMID: 38135466
DOI: 10.1002/ajmg.a.63512

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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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