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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering, Andrew K; Bryant, Laura M; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J.
Afiliação
  • Sobering AK; AU/UGA Medical Partnership, Department of Basic Sciences, University of Georgia Health Sciences Campus, Athens, GA 30602, USA.
  • Bryant LM; St. George's University, Department of Biochemistry, St. George's, Grenada, West Indies.
  • Li D; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada, West Indies.
  • McGaughran J; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Maystadt I; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Moortgat S; Genetic Health Queensland, RBWH, Brisbane and The University of Queensland School of Medicine, Brisbane, QLD 4029, Australia.
  • Graham JM; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
  • van Haeringen A; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
  • Ruivenkamp C; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA.
  • Cuperus R; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.
  • Vogt J; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.
  • Morton J; Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands.
  • Brasch-Andersen C; Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Steenhof M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Hansen LK; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.
  • Adler É; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense 5000, Denmark.
  • Lyonnet S; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.
  • Pingault V; Department of Paediatrics, Odense University Hospital, Odense 5000, Denmark.
  • Sandrine M; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
  • Ziegler A; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
  • Donald T; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
  • Nelson B; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
  • Holt B; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
  • Petryna O; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.
  • Firth H; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.
  • McWalter K; Department of Anatomical Sciences, St. George's University, Grenada, West Indies.
  • Zyskind J; Hackensack University Ocean Medical Center, Department of Psychiatry, Hackensack, NJ 08724, USA.
  • Telegrafi A; Department of Clinical Genetics, Cambridge University Hospitals, Box 134, Cambridge CB2 0QQ, UK.
  • Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
  • Person R; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
  • Bamshad MJ; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
  • Earl D; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
  • Tsai AC; Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Yearwood KR; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Marco E; Brotman-Baty Institute, Seattle, WA 98195, USA.
  • Nowak C; Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Hakonarson H; University of Oklahoma, Section of Genetics, 800 Stanton L Young Boulevard, Oklahoma City, OK 73117, USA.
  • Bhoj EJ; University Health Services, St. George's University, Grenada, West Indies.
HGG Adv ; 3(3): 100102, 2022 Jul 14.
Article em En | MEDLINE | ID: mdl-35469323
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article