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Article

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 2006

Nallasamy Sudha, Kherani Femida, Yaeger Dinah, McCallum Jennifer, Kaur Maninder, Devoto Marcella, Jackson Laird G, Krantz Ian D, Young Terri L

Abstract excerpt

OBJECTIVE: To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS: Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the study. We conducted...

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Source

Identifiers

PMID: 16606884
DOI: 10.1001/archopht.124.4.552

Genes

NIPBL

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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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Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.PMID 16606884Read ↗

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