Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Parenti, I. ; Gervasini, C. ; Pozojevic, J. ; Graul-Neumann, L. ; Azzollini, J. ; Braunholz, D. ; Watrin, E. ; Wendt, K.S. ; Cereda, A. ; Cittaro, D. ; Gillessen-Kaesbach, G. ; Lazarevic, D. ; Mariani, M. ; Russo, S. ; Werner, R. ; Krawitz, P. ; Larizza, L. ; Selicorni, A. ; Kaiser, F.J.

Clinical epigenetics, 2016-01, Vol.89 (1), p.74-81 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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