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

Titel:: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Dokumenttyp:: Letter; Research Support, Non-U.S. Gov't; Letter
Autor(en):: 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
Zeitschriftentitel:: Clin Genet
Jahr:: 2014
Band / Volume:: 86
Heft / Issue:: 6
Seitenangaben Beitrag:: 595-7
Sprache:: eng
Volltext / DOI:: doi:10.1111/cge.12333
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/24635725
Print-ISSN:: 0009-9163
TUM Einrichtung:: Institut für Humangenetik
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