Article

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of Literature

2024-02-13

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with a distinct set of facial features, growth limitations, and limb anomalies. Its clinical spectrum is broad and presents significant challenges in pediatric diagnosis and management. The variable presentation of the disorder, due to cohesin complex mutations, requires extensive research to refine care and improve outcomes. This article provides a c...

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Literature Corpus work: 39be11e5-a363-54aa-bde3-f812b769f40b
DOI: 10.20944/preprints202402.0646.v1

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