Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

Abstract Postzygotic mosaicism (PZM) has been increasingly recognized in Cornelia de Lange syndrome (CdLS). However, it has been scarcely described when the genetic cause resides in SMC1A, an X-linked cohesin member implicated in approximately 5% of cases. Here, we report the first female patient wi...

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Main Authors: Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona, María Arnedo, Beatriz Puisac, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Feliciano J. Ramos, Juan Pié, Ana Latorre-Pellicer
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Cornelia de Lange syndrome
SMC1A
Postzygotic mosaicism
Deep-sequencing
X-linked inheritance
Online Access:https://doi.org/10.1038/s41598-025-07268-z
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https://doi.org/10.1038/s41598-025-07268-z

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