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; André Travessa; Juliette Dupont; Lurdes Sampaio; Jérôme 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; John Christodoulou; Philippe Touraine; Andrew H. Sinclair