@article{tucker:hal-02796991,
TITLE = {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)},
AUTHOR = {Tucker, Elena J. and Rius, Rocio and Jaillard, Sylvie and Bell, Katrina and Lamont, Phillipa J. and Travessa, Andre and Dupont, Juliette and Sampaio, Lurdes and Dulon, Jerome and Vuillaumier-Barrot, Sandrine and Whalen, Sandra and Isapof, Arnaud and Stojkovic, Tanya and Quijano-Roy, Susana and Robevska, Gorjana and van den Bergen, Jocelyn and Hanna, Chloe and Simpson, Andrea and Ayers, Katie and Thorburn, David R. and Christodoulou, John and Touraine, Philippe and Sinclair, Andrew H.},
URL = {https://univ-rennes.hal.science/hal-02796991},
JOURNAL = {Human Genetics},
PUBLISHER = {Springer Verlag},
VOLUME = {139},
NUMBER = {10},
PAGES = {1325-1343},
YEAR = {2020},
MONTH = Oct, DOI = {10.1007/s00439-020-02176-w},
HAL_ID = {hal-02796991},
HAL_VERSION = {v1},
}