Journal article

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J Coman, Richard J Leventer, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2014


Awarded by National Health and Medical Research Council Australia Program

Awarded by ARC Future Fellowship

Awarded by NHMRC Practitioner Fellowship

Awarded by NHMRC Career Development Fellowship

Funding Acknowledgements

We thank the families involved in this research and are grateful to Hayley Mountford and Greta Gillies for assistance with patient samples. We thank John Bateman for collagen analysis in BDCS1. Skin fibroblasts from BDCS3 were obtained from the Cell Line and DNA Biobank from patients affected by genetic diseases (G. Gaslini Institute), Telethon Network of Genetic Biobank (Project GTB07001A). This work was funded in part by National Health and Medical Research Council Australia Program Grant 490037 to DJA and MB. KRS is supported by a PhD scholarship funded by the Pratt Foundation. MB is supported by an ARC Future Fellowship (FT100100764). MBD is supported by an NHMRC Practitioner Fellowship (546452) and PJL is supported by an NHMRC Career Development Fellowship (APP1032364). This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.