Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

Teresa-Rodrigo, M. Eckhold, J. Puisac, B. Pozojevic, J. Parenti, I. Baquero-Montoya, C. Gil-Rodríguez, M.C. Braunholz, D. Dalski, A. Hernández-Marcos, M. Ayerza, A. Bernal, M.L. Ramos, F.J. Wieczorek, D. Gillessen-Kaesbach, G. Pié, J. Kaiser, F.J. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

BioMed res. int.

10.1155/2016/8742939 2016

2016