Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Titel:
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Auteur:
Lines, Matthew A. Huang, Lijia Schwartzentruber, Jeremy Douglas, Stuart L. Lynch, Danielle C. Beaulieu, Chandree Guion-Almeida, Maria Leine Zechi-Ceide, Roseli Maria Gener, Blanca Gillessen-Kaesbach, Gabriele Nava, Caroline Baujat, Geneviève Horn, Denise Kini, Usha Caliebe, Almuth Alanay, Yasemin Utine, Gulen Eda Lev, Dorit Kohlhase, Jürgen Grix, Arthur W. Lohmann, Dietmar R. Hehr, Ute Böhm, Detlef Majewski, Jacek Bulman, Dennis E. Wieczorek, Dagmar Boycott, Kym M.