Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn Show all
Human Genetics | SPRINGER | Published : 2020
Awarded by National Health and Medical Research Council (NHMRC)
Awarded by NHMRC
WGS was performed as part of the Australian Genomics Health Alliance (Australian Genomics) project, funded by a National Health and Medical Research Council (NHMRC) Targeted Call for Research Grant (1113531). This work was supported by an NHMRC program Grant (1074258, to A.H.S.), and NHMRC fellowships (1054432 to E.J.T., 1062854 to A.H.S., 1155244 to D.R.T), and a CONACYT Postgraduate Research Scholarship (R.R). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.