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

doi:10.1111/cge.12333

Case Reports

. 2014 Dec;86(6):595-7.

doi: 10.1111/cge.12333. Epub 2014 Jan 26.

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

C Baquero-Montoya¹, M C Gil-Rodríguez, D Braunholz, M E Teresa-Rodrigo, C Obieglo, B Gener, T Schwarzmayr, T M Strom, P Gómez-Puertas, B Puisac, G Gillessen-Kaesbach, A Musio, F J Ramos, F J Kaiser, J Pié

Affiliations

Affiliation

¹ Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain.

PMID: 24635725
DOI: 10.1111/cge.12333

Case Reports

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

C Baquero-Montoya et al. Clin Genet. 2014 Dec.

. 2014 Dec;86(6):595-7.

doi: 10.1111/cge.12333. Epub 2014 Jan 26.

Authors

Affiliation

¹ Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain.

PMID: 24635725
DOI: 10.1111/cge.12333

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

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

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