WES in 42 trios of syndromic and isolated Chiari Malformation type 1: how to define the genetic cause in a high clinical heterogeneous condition

A. La Barbera,A. Provenzano, L. Tiberi, R. Artuso, V. Palazzo,P. Reho, E. Bosi, A. Pagliazzi,F. Peluso, S. Landini,I. Sani,L. Giunti,S. Guarducci,M. Pantaleo, B. Lucherini,M. Scagnet,L. Genitori,S. Giglio

EUROPEAN JOURNAL OF HUMAN GENETICS(2019)

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