Title: NEUTROPENIA AND INTELLECTUAL DISABILITY ARE HALLMARKS OF BIALLELIC AND DE NOVO CLPB DEFICIENCY
Authors: Saskia B. Wortmann*, Szymon Ziętkiewicz*, Sergio Guerrero-Castillo, René G. Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C. Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, P Carlos E. Prada, John Christodoulou, Nicole I. Wolf, Hanka Venselaar, Johannes A. Mayr, Ron A. Wevers *równocenny wkład
Journal: Genetics in Medicine(tom: 23(9), strony: 1705-1714), Wydawca:Springer Nature
Publication type: article
DOI: 10.1038/s41436-021-01194-x