Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

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Authors: Stylianos E Antonarakis, Ales Holoubek, Melivoia Rapti, Jesse Rademaker, Jenny Meylan, Justyna Iwaszkiewicz, Vincent Zoete, Callum Wilson, Juliet Taylor, Muhammad Ansar, Christelle Borel, Olivier Menzel, Kateřina Kuželová, Federico A Santoni

Journal title: Human Molecular Genetics

Journal publisher: Oxford University Press

Published year: 2021

Published pages: in press

DOI identifier: 10.1093/hmg/ddab026

ISSN: 0964-6906