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Article

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

European journal of human genetics : EJHG - 1 Apr 2007

Bhuiyan Zahurul A, Stewart Helen, Redeker Egbert J, Mannens Marcel M A M, Hennekam Raoul C M

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development. Mutations in NIPBL are associated with CdLS in 27-56% of cases and have been reported as point mutations, small insertions and deletions in coding regions, regulatory regions and at splice junctions. All previous...

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Source

Identifiers

PMID: 17264868
DOI: 10.1038/sj.ejhg.5201776

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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Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.PMID 17264868Read ↗

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Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.Semantic proximity Read ↗

Novel mosaic variants in two patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

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

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.Semantic proximity Read ↗

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Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.Semantic proximity Read ↗

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