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Article

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.

International journal of pediatric otorhinolaryngology - 1 Jul 2014

Marchisio Paola, Selicorni Angelo, Bianchini Sonia, Milani Donatella, Baggi Elena, Cerutti Marta, Larizza Lidia, Principi Nicola, Esposito Susanna

Abstract excerpt

OBJECTIVE: Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype. METHODS: The study involved 44 pediatric patients aged 1-18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological...

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Source

Identifiers

PMID: 24774220
DOI: 10.1016/j.ijporl.2014.03.038

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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