Régal, Luc
Mårtensson, Emma
Maystadt, Isabelle
Voermans, Nicol
Lederer, Damien
Burlina, Alberto
Juan Fita, María Jesús
Hoogeboom, A. Jeannette M.
Olsson Engman, Mia
Hollemans, Tess
Schouten, Meyke
Meulemans, Sandra
Jonson, Tord
François, Inge
Gil Ortega, David
Kamsteeg, Erik-Jan
Creemers, John W.M.
This article is maintained by: Elsevier
Article Title: PREPL deficiency: delineation of the phenotype and development of a functional blood assay
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/gim.2017.74
Content Type: article
Copyright: © 2018, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics