Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
Stylianos E. Antonarakis, Ales Holoubek, Melivoia Rapti, Jesse Rademaker, Jenny Meylan, Justyna Iwaszkiewicz, Vincent Zoete, Muhammad Ansar, Christelle Borel, Olivier Menzel, Kateřina Kuželová, Federico A. Santoni
bioRxiv 2020.10.06.328419; doi: https://doi.org/10.1101/2020.10.06.328419