Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
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| Title: | Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. |
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| 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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| ISSN: | 00099163 |
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| DOI: | 10.1111/cge.12333 |
