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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).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: dulon j. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
Voican A, Bachelot A, Bouligand J, Francou B, Dulon J, Lombès M, Touraine P, Guiochon-Mantel A. Voican A, et al. Among authors: dulon j. J Clin Endocrinol Metab. 2013 May;98(5):E1017-21. doi: 10.1210/jc.2012-4111. Epub 2013 Mar 29. J Clin Endocrinol Metab. 2013. PMID: 23543655
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A. Desai S, et al. Among authors: dulon j. J Clin Endocrinol Metab. 2017 Feb 1;102(2):576-582. doi: 10.1210/jc.2016-2565. J Clin Endocrinol Metab. 2017. PMID: 27802094 Free PMC article.
31 results