Journal article

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot RF Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob PW Rouhl, Servi JC Stevens, Alexander PA Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie TRM Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler Show all

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2018


Awarded by Deutsche Forschungsgemeinschaft

Awarded by National Medical Research Council, Ministry of Health, Republic of Singapore

Awarded by Health Innovation Challenge Fund

Awarded by Wellcome Trust Sanger Institute

Funding Acknowledgements

DH and DB are supported by a grant from the Newlife Foundation, UK. RJL is supported by a Melbourne Children's Clinician Scientist Fellowship. DN is supported by the Deutsche Forschungsgemeinschaft NI 1110/4-1. KS and PL (JN) are supported by MH CR AZV 15-33041A. The work for patient 29 was partially funded by NMRC/CG/006/2013 from the National Medical Research Council, Ministry of Health, Republic of Singapore. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. None of the funders were involved in study design, data collection, analysis and interpretation, writing of the report or in the decision to submit the paper for publication.