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GeneReviews: Koolen-de Vries Syndrome

Clinical characteristics. Koolen-de Vries syndrome (KdVS) is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features.…

Voice in Friedreich ataxia

The relationship between dysphonia and dysarthria in FRDA suggests that reducing overall dysphonia severity via therapeutic techniques that…

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