Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Delphine Bronesky Emma Desgranges 1 Anna Corvaglia 2 Patrice François 3 Carlos Caballero Laura Prado Alejandro Toledo‐arana Inigo Lasa Karen Moreau 4 François François Stefano Marzi 5 Pascale Romby 1 Isabelle Caldelari 1 Marjo van der Knaap 6 Marianna Bugiani 7 Marisa Mendes 8 Lisa Riley 9 Desiree E.C. Smith Joëlle Rudinger-Thirion 1 Magali Frugier 1 Marjo Breur Joanna Crawford Judith van Gaalen Meyke Schouten Marjo Willems Quinten Waisfisz 10 Frédéric Tran Mau-Them 11 Richard Rodenburg 12 Ryan Taft Boris Keren 13 John Christodoulou 14 Christel Depienne 15 Cas Simons Gajja Salomons 16 Fanny Mochel 17
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Submitted on : Friday, May 3, 2019 - 3:33:40 PM
Last modification on : Tuesday, May 7, 2019 - 11:42:40 AM

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Delphine Bronesky, Emma Desgranges, Anna Corvaglia, Patrice François, Carlos Caballero, et al.. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology, American Academy of Neurology, 2019, 38 (6), pp.10.1212/WNL.0000000000007098. ⟨10.1212/WNL.0000000000007098⟩. ⟨hal-02119066⟩

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