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Article

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

Journal of clinical pathology - 1 Mar 2014

Jones G E, Tanteles G A, Vasudevan P C, Porter H, Robertson L

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24189319
DOI: 10.1136/jclinpath-2013-201856

Genes

NIPBL

Provenance

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].PMID 24189319Read ↗

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

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.Semantic proximity Read ↗

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndromeSemantic proximity Read ↗

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.Semantic proximity Read ↗

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].Semantic proximity Read ↗

[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].Semantic proximity Read ↗

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].Semantic proximity Read ↗

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

[Prenatal diagnosis and genetic analysis of a fetus with Cornelia de Lange syndrome type 1 due to a splicing variant of NIPBL gene].Semantic proximity Read ↗

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Clinical utility gene card for: Cornelia de Lange syndrome.Semantic proximity Read ↗

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].Semantic proximity Read ↗

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