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Article

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Andes pediatrica : revista Chilena de pediatria - 1 Aug 2025

Keilhold Gustavo, Cárdenas Tadich Antonio, Ludeña Carmen, Araya Castillo Maykol, Keilhold Martina, Callea Michele, Cammarata-Scalisi Francisco

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder caused by pathogenic variants in genes related to the regulation of cohesin transcription. It presents a very heterogeneous clinical phenotype, with wide variability in severity. OBJECTIVE: To describe the clinical and molecular findings in patients diagnosed with CdLS. PATIENTS AND METHOD: Observational and descriptive study conducted in patients with...

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Identifiers

PMID: 41842779
DOI: 10.32641/andespediatr.v96i4.5532

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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