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. ThorburnJohn Christodoulou, Philippe Touraine, Andrew H. Sinclair

Research output: Contribution to journal › Article › peer-review

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Medicine & Life Sciences