De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Titel:
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Auteur:
Jansen, Sandra Geuer, Sinje Pfundt, Rolph Brough, Rachel Ghongane, Priyanka Herkert, Johanna C. Marco, Elysa J. Willemsen, Marjolein H. Kleefstra, Tjitske Hannibal, Mark Shieh, Joseph T. Lynch, Sally Ann Flinter, Frances FitzPatrick, David R. Gardham, Alice Bernhard, Birgitta Ragge, Nicola Newbury-Ecob, Ruth Bernier, Raphael Kvarnung, Malin Magnusson, E.A. Helena Wessels, Marja W. van Slegtenhorst, Marjon A. Monaghan, Kristin G. de Vries, Petra Veltman, Joris A. Lord, Christopher J. Vissers, Lisenka E.L.M. de Vries, Bert B.A.