Open AccessOphthalmologic Findings in Cornelia de Lange Syndrome
Author(s) -
Sudha Nallasamy
Publication year - 2006
Publication title -
archives of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1538-3601
pISSN - 0003-9950
DOI - 10.1001/archopht.124.4.552
Subject(s) - missense mutation , frameshift mutation , nonsense mutation , medicine , strabismus , ptosis , genetics , mutation , compound heterozygosity , cornelia de lange syndrome , ophthalmology , biology , pediatrics , gene
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.
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