LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Anne Sophie Neyroud, Joëlle Rudinger‐Thirion, Magali Frugier, Lisa G. Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Célia Ravel, Andrew Sinclair, Marc‐Antoine Belaud‐Rotureau, Elena J. Tucker, Sylvie Jaillard
Topics & Concepts
Hearing lossPremature ovarian insufficiencyMissense mutationSensorineural hearing lossExome sequencingNewborn screeningLoss functionMedicineGenetic testingCongenital hearing lossBioinformaticsMedical geneticsPhenotypeAudiologyPediatricsGeneticsBiologyGeneInternal medicineMitochondrial Function and PathologyRNA modifications and cancerCongenital heart defects research