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

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...

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Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2021
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8322329/
https://ncbi.nlm.nih.gov/pubmed/34326454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-94958-z
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