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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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Bibliographic Details
Published in:	Clinical genetics 2014-12, Vol.86 (6), p.595-597
Main Authors:	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.
Format:	Article
Language:	English
Subjects:	De Lange Syndrome - genetics High-Throughput Nucleotide Sequencing - methods Humans Infant Mosaicism Mutation Proteins - genetics
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