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Article

Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).

Clinical dysmorphology - 1 Oct 2011

Wierzba Jolanta, Kuzniacka Alina, Ratajska Magdalena, Lipska Beata Stefania, Kardas Iwona, Iliszko Mariola, Limon Janusz

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Share to Cell Cycle Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21666440
DOI: 10.1097/MCD.0b013e3283455175

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).PMID 21666440Read ↗

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

A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome.Semantic proximity Read ↗

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

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 ↗

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.Semantic proximity Read ↗

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

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

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.Semantic proximity Read ↗

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

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

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

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