Article

A <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndrome

2024-04-22

Abstract excerpt

<h4>SUMMARY</h4> P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous miss...

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Literature Corpus work: e8f767ef-6bd4-5f7f-a1af-27606260ec96
DOI: 10.1101/2024.04.18.590108

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