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, Rocío Rius, Sylvie Jaillard, Katrina M. 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 Sinclair