Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Gina L O'Grady, Alan Ma, Deborah Sival, Monica TY Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts, Nigel F Clarke
Eur J Hum Genet | NATURE PUBLISHING GROUP | Published : 2016
Awarded by National Health and Medical Research Council of Australia
Awarded by National Human Genome Research Institute of the US National Institutes of Health (Medical Sequencing Program)
Awarded by Fund Nuts Ohra
Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE
We thank the families for their invaluable contributions. This work was funded by the National Health and Medical Research Council of Australia grants 1022707 and 1031893 (NFC and KNN), and 1056285 (GO). Exome sequencing was supported by grants from the National Human Genome Research Institute of the US National Institutes of Health (Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator, Lander). Grant 1202-023 was provided by Fund Nuts Ohra to MTYW.