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Title:

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

Document type:
Letter; Research Support, Non-U.S. Gov't; Letter
Author(s):
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
Journal title abbreviation:
Clin Genet
Year:
2014
Journal volume:
86
Journal issue:
6
Pages contribution:
595-7
Language:
eng
Fulltext / DOI:
doi:10.1111/cge.12333
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24635725
Print-ISSN:
0009-9163
TUM Institution:
Institut für Humangenetik
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