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Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

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第一作者: Sabrina,Neri
第一单位: Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Medical and Surgical Sciences, "Magna Graecia" University, Catanzaro, Italy.
作者单位: Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Medical and Surgical Sciences, "Magna Graecia" University, Catanzaro, Italy. [1] Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. [2] UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [3] UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Serviço de Neurologia, Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; CGPP and UnIGENE, Instituto de Biologia Molecular e Celular, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. [4] Department of Maternal-Fetal Medicine, University of Washington Medical Center, Seattle, WA, USA. [5] Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA, USA. [6] Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark. [7] Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark. [8] Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark. [9] Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark. Electronic address: abaya@filadelfia.dk. [10]
DOI 10.1016/j.ejmg.2022.104624
PMID 36130690
发布时间 2022-10-21
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European journal of medical genetics

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