Associated Papers
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report.
Ding FJ et al.
World Journal of Clinical Cases, 2021
A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.
Das J et al.
Neurologia I Neurochirurgia Polska, 2018
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Derksen A et al.
Child Neurology Open, 0
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