Expanding Phenotype of - Related Disorders: A Case Series

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing lo...

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Auteurs principaux: Jelena De Vrieze MD, Ingrid M.B.H. van de Laar MD, PhD, Johanneke F. de Rijk-van Andel MD, PhD, Erik-Jan Kamsteeg MD, PhD, Irene A.W. Kotsopoulos MD, PhD, Stella A. de Man MD, PhD
Format: article
Langue:EN
Publié: SAGE Publishing 2021
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Accès en ligne:https://doaj.org/article/d07d7dc9bd334c7088482ef36bd11350
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