Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

doi:10.1038/s41598-021-94958-z

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Article

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Scientific reports - 29 Jul 2021

Latorre-Pellicer Ana, Gil-Salvador Marta, Parenti Ilaria, Lucia-Campos Cristina, Trujillano Laura, Marcos-Alcalde Iñigo, Arnedo María, Ascaso Ángela, Ayerza-Casas Ariadna, Antoñanzas-Pérez Rebeca, Gervasini Cristina, Piccione Maria, Mariani Milena, Weber Axel, Kanber Deniz, Kuechler Alma, Munteanu Martin, Khuller Katharina, Bueno-Lozano Gloria, Puisac Beatriz, Gómez-Puertas Paulino, Selicorni Angelo, Kaiser Frank J, Ramos Feliciano J, Pié Juan

Abstract excerpt

Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the...

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Identifiers

PMID: 34326454
DOI: 10.1038/s41598-021-94958-z
PMCID: PMC8322329

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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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