Associated Papers
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Werren EA et al.
American Journal of Medical Genetics. Part A, 2025
Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.
Shen L et al.
Molecular Genetics & Genomic Medicine, 2025
Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.
Domenach L et al.
Bmc Medical Genomics, 2025
New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Schnur RE et al.
Clinical Genetics, 2024
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA et al.
Biorxiv : the Preprint Server for Biology, 2024
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M et al.
Frontiers in Neuroscience, 2023
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE et al.
Human Molecular Genetics, 2021
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