Associated Papers
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M et al.
Frontiers in Neuroscience, 2023
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Horn S et al.
Brain : a Journal of Neurology, 2019
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Chiong MA et al.
Orphanet Journal of Rare Diseases, 2017
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