Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Abstract 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...
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Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/44bd90137bd44131872e1f1eb901a15b |
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