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

Citation
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. (2014). Somatic mosaicism in a Cornelia de Lange syndrome patient with <scp>NIPBL</scp> mutation identified by different next generation sequencing approaches. Clinical Genetics, 86(6), 595–597. Portico. https://doi.org/10.1111/cge.12333
DOI:
DOI: 10.1111/cge.12333
Year of publication:
2014
Authors participating in BCBHub:
Paulino Gomez-Puertas