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

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Bibliographic Details
Title: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Authors: Baquero‐Montoya, C.1, Gil‐Rodríguez, M.C.1, Braunholz, D.2, Teresa‐Rodrigo, M.E.1, Obieglo, C.2, Gener, B.3, Schwarzmayr, T.4, Strom, T.M.5, Gómez‐Puertas, P.6, Puisac, B.1, Gillessen‐Kaesbach, G.7, Musio, A.7, Ramos, F.J.1,8, Kaiser, F.J.2, Pié, J.1
Source: Clinical Genetics. Dec2014, Vol. 86 Issue 6, p595-597. 3p. 1 Graph.
Database: Academic Search Ultimate
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