Associated Papers
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Dafsari HS et al.
Annals of Clinical and Translational Neurology, 2022
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.
Beyens A et al.
Clinical Genetics, 2021
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M et al.
Journal of Inherited Metabolic Disease, 2020
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