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New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)

Crossref DOI link: https://doi.org/10.1016/j.anpede.2025.503771

Published Print: 2025-04

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Maeso-Méndez, Sandra

Jiménez Echevarría, Saioa

García Casales, Zuriñe

Díez López, Ignacio
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Text and Data Mining valid from 2025-04-01

Text and Data Mining valid from 2025-04-01

Version of Record valid from 2025-03-23
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This article is maintained by: Elsevier

Article Title: New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)

Journal Title: Anales de Pediatría (English Edition)

CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.anpede.2025.503771

CrossRef DOI link to the associated document: https://doi.org/10.1016/j.anpedi.2025.503771

Content Type: article

Copyright: © 2025 Published by Elsevier España, S.L.U. on behalf of Asociación Española de Pediatría.