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

Autor: Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland., Holoubek A; Department of Proteomics, Institute of Hematology and Blood Transfusion, Prague 12820, Czech Republic., Rapti M; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Rademaker J; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Meylan J; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland., Wilson C; National Metabolic Service, Starship Children's Hospital, Auckland 1142, New Zealand., Taylor J; Genetic Health Services New Zealand - Northern Hub, Auckland City Hospital, Auckland 1142, New Zealand., Ansar M; Institute of Molecular and Clinical Ophtalmology Basel (IOB), Basel 4031, Switzerland., Borel C; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland., Menzel O; Health 2030 Genome Center, Foundation Campus Biotech Geneva Foundation, Geneva 1202, Switzerland., Kuželová K; Department of Proteomics, Institute of Hematology and Blood Transfusion, Prague 12820, Czech Republic., Santoni FA; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland.; Faculty of Biology and Medicine, University of Lausanne, Lausanne 1011, Switzerland.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Dec 17; Vol. 31 (1), pp. 1-9.