Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
- 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.
ISSN: 1399-0004, 0009-9163
Year of publication: 2014
Volume: 86
Issue: 6
Pages: 595-597
Type: Editorial