New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy - Concepedia

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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

44

Citations

13

References

2016

Year

Elena Martín‐Hernández, María Elena Rodríguez‐García, Ana Camacho, Antoni Matilla‐Dueñas, María Teresa García‐Silva, Pilar Quijada‐Fraile, Marc Corral‐Juan, P. Tejada‐Palacios, Rogelio Simón de las Heras, Joaquı́n Arenas,

Mendelian DisorderNovel SyndromeOphthalmologyGenetic DisorderGeneticsInherited Metabolic DiseaseDegenerative DiseaseNeurologyDisease Gene IdentificationOptic AtrophyNeuropathologyMedicineNeurogenetics

References

	Year	Citations

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