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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

Abstract excerpt

No abstract is available from the source.

Topics

Autopsy
Cell Cycle Proteins
DNA Mutational Analysis
De Lange Syndrome
Female
Fetal Death
Genetic Predisposition to Disease
Genetic Testing
Gestational Age
Humans
Male
Mutation
Phenotype
Predictive Value of Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

Proteins

Source

Identifiers

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

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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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 ↗

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