ELENA
MARTÍN HERNÁNDEZ
Profesora asociada
Pitié-Salpêtrière Hospital
París, FranciaPublications en collaboration avec des chercheurs de Pitié-Salpêtrière Hospital (1)
2018
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1