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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints, Suzanna G M; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H; Hunt, David; Mendelsohn, Bryce A; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernández-Jaén, Alberto; van Roozendaal, Kees; Stevens, Servi J C; Macville, Merryn V E; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M; McGregor, Lesley; Maas, Saskia M; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S; Engle, Elizabeth C; Houge, Gunnar; Gradek, Gyri A; Douglas, Andrew G L; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C; Hirata, Hiromi; Kalscheuer, Vera M.
Afiliação
  • Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
  • Hennig F; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
  • Colombo R; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Jacquemont S; Catholic University of the Sacred Heart, Rome, Italy.
  • Terhal P; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Zimmerman HH; Service de Génétique Médicale, CHUV, Lausanne, Switzerland.
  • Hunt D; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.
  • Kordaß U; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Webster R; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
  • Sinnema M; MVZ für Humangenetik und Molekularpathologie GmbH, Greifswald, Germany.
  • Abdul-Rahman O; The Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Suckow V; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
  • Fernández-Jaén A; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
  • van Roozendaal K; Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.
  • Stevens SJC; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Macville MVE; Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.
  • Al-Nasiry S; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
  • van Gassen K; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
  • Utzig N; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
  • Koudijs SM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
  • McGregor L; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
  • Maas SM; Department of Obstetrics and Gynecology, Prenatal Diagnostics & Therapy, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Baralle D; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Dixit A; Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
  • Wieacker P; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Lee M; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
  • Lee AS; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Engle EC; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Houge G; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Gradek GA; City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Douglas AGL; Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Münster, Germany.
  • Longman C; Department of Pediatrics, Division of Pediatric Neurology, University of Mississippi Medical Center, Jackson, Mississippi.
  • Joss S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Velasco D; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Hennekam RC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Hirata H; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Kalscheuer VM; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Hum Mutat ; 40(12): 2270-2285, 2019 12.
Article em En | MEDLINE | ID: mdl-31206972
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Proteínas Nucleares / Peptídeos e Proteínas de Sinalização Intracelular / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Proteínas Nucleares / Peptídeos e Proteínas de Sinalização Intracelular / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article