Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>.

Morgan, Neil V; Yngvadottir, Bryndis; O'Driscoll, Mary; Clark, Graeme R; Walsh, Diana; Martin, Ezequiel; Tee, Louise; Reid, Evan; Titheradge, Hannah L; Maher, Eamonn R

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Morgan, Neil V; Yngvadottir, Bryndis; O'Driscoll, Mary; Clark, Graeme R; Walsh, Diana; Martin, Ezequiel; Tee, Louise; Reid, Evan; Titheradge, Hannah L; Maher, Eamonn R.

Afiliación

Morgan NV; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Yngvadottir B; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
O'Driscoll M; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Clark GR; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Walsh D; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Martin E; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Tee L; Oncology Department, Cancer Molecular Diagnostics Laboratory, University of Cambridge, Cambridge CB2 0XZ, UK.
Reid E; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Titheradge HL; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Maher ER; Cambridge Institute of Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.