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Article

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

American journal of human genetics - 1 Oct 2004

Gillis Lynette A, McCallum Jennifer, Kaur Maninder, DeScipio Cheryl, Yaeger Dinah, Mariani Allison, Kline Antonie D, Li Hui-hua, Devoto Marcella, Jackson Laird G, Krantz Ian D

Abstract excerpt

The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. Both missense and protein-truncating mutations in NIPBL, the human homolog of the Drosophila melanogaster Nipped-B gene, have recently been reported to cause CdLS. The...

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Identifiers

PMID: 15318302
DOI: 10.1086/424698
PMCID: PMC1182048

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.PMID 15318302Read ↗

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