GeneticsHuman Molecular GeneticsPeer-reviewed
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
Stylianos E. Antonarakis, Aleš Holoubek, Melivoia Rapti…·Federico Andrea Santoni
The paper identifies a dominant monoallelic PAK2 variant causing Knobloch syndrome type 2 with intellectual disability and retinal degeneration.
18 citations