A second hotspot for pathogenic exon-skipping variants in CDC45.

Autor: Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Ruegg MSG; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Fellows BJ; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Cao J; Division of Pediatric Radiology, Department of Radiology Duke University School of Medicine, Durham, NC, USA., Uhrig S; Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany., Einsele-Scholz S; Center for Human Genetics Tuebingen and CeGaT GmbH, Tuebingen, Germany., Biskup S; Center for Human Genetics Tuebingen and CeGaT GmbH, Tuebingen, Germany., Hawarden SRA; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Salpietro V; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Brown CM; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 786-794. Date of Electronic Publication: 2024 Mar 11.