@article{0cae8bf9b28748408384b2f1151b3a87,
title = "Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees",
keywords = "congenital neutropenia, granulocyte colony-stimulating factor, granulocyte colony-stimulating factor receptor, neutrophils, primary immunodeficiency",
author = "\{NBR-RD PID Consortium\} and \{NIHR BioResource\} and Sprenkeler, \{Evelien G.G.\} and Tool, \{Anton T.J.\} and Kreft, \{Iris C.\} and \{van Alphen\}, \{Floris P.J.\} and Seneviratne, \{Suranjith L.\} and Jesmeen Maimaris and Asad Luqmani and Karin Vanleeuwen and Robin Vanbruggen and Burns, \{Siobhan O.\} and Kuijpers, \{Taco W.\} and Zoe Adhya and Hana Alachkar and Allen, \{Carl E.\} and Anantharachagan, \{Ari Haran\} and Richard Antrobus and Gururaj Arumu-Gakani and Chiara Bacchelli and Baxendale, \{Helen E.\} and Claire Bethune and Shahnaz Bibi and Barbara Boardman and Claire Booth and Matthew Brown and Browning, \{Michael J.\} and Mary Brownlie and Buckland, \{Matthew S.\} and Burns, \{Siobhan O.\} and Burren, \{Oliver S.\} and Anita Chandra and Chinn, \{Ivan K.\} and Hayley Clifford and Nichola Cooper and Bree, \{Godelieve J.de\} and Davies, \{E. Graham\} and Sarah Deacock and John Dempster and Devlin, \{Lisa A.\} and Elizabeth Drewe and Edgar, \{J. David M.\} and William Egner and Khalifa, \{Shuayb El\} and Tariq El-Shanawany and Farmery, \{James H.R.\} and Gaspar, \{H. Bobby\} and Rohit Ghurye and Gil-Mour, \{Kimberly C.\} and Sarah Goddard and Pavels Gordins and Sofia Grigoriadou",
year = "2020",
month = dec,
doi = "10.1111/bjh.17081",
language = "English",
volume = "191",
pages = "930--934",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley and Sons Inc.",
number = "5",
}