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2020

Riley L G, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon T I, Nixon C Y, Kirk E P, Roscioli T, Lunke S, Stark Z, Wierenga K J, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton A G, Thorburn D R, Christodoulou J

The Expanding LARS2 Phenotypic Spectrum: HLASA, Perrault Syndrome With Leukodystrophy, and Mitochondrial Myopathy Article de journal

Dans: Hum Mutat, vol. 41, no. 8, p. 1425-1434, 2020, ISBN: 32442335.

Résumé | Liens | BibTeX | Étiquettes: FRUGIER, Perrault syndrome low frequency hearing loss primary ovarian insufficiency sensorineural hearing loss, Unité ARN