Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Journal article published in 2014 by
C. Baquero-Montoya,
M. C. Gil-Rodríguez,
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
and other authors.
,
F. J. Ramos ,
F. J. Kaiser
and other authors.
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