Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
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DOI: 10.1002/mdc3.13529
Abstract: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with… read more here.
Keywords: dystonia due; onset choreo; childhood onset; dystonia ... See more keywords
Neurodevelopmental disorder with dystonia due to SOX6 mutations
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DOI: 10.1002/mgg3.2051
Abstract: Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, read more here.
Keywords: neurodevelopmental disorder; dystonia due; due sox6; disorder dystonia ... See more keywords