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Article

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

Clinical genetics - 1 Dec 2014

Baquero-Montoya C, Gil-Rodríguez M C, Braunholz D, Teresa-Rodrigo M E, Obieglo C, Gener B, Schwarzmayr T, Strom T M, Gómez-Puertas P, Puisac B, Gillessen-Kaesbach G, Musio A, Ramos F J, Kaiser F J, Pié J

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Source

Identifiers

PMID: 24635725
DOI: 10.1111/cge.12333

Genes

NIPBL

Provenance

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Related research

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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.PMID 24635725Read ↗

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

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

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.Semantic proximity Read ↗

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

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

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

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.Semantic proximity Read ↗

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