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Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake, Andrew T; Griffin, Casey; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Chitayat, David; Davis, Mark R; Doust, Soghra J; Drake, Amelia F; Duenas-Roque, Milagros M; Goldblatt, Jack; Gustafson, Jonas A; Hurtado-Villa, Paula; Johns, Alexis; Karp, Natalya; Laing, Nigel G; Magee, Leanne; Mullegama, Sureni V; Pachajoa, Harry; Porras-Hurtado, Gloria L; Schnur, Rhonda E; Slee, Jennie; Singer, Steven L; Staffenberg, David A; Timms, Andrew E; Wise, Cheryl A; Zarante, Ignacio; Saint-Jeannet, Jean-Pierre; Luquetti, Daniela V.
Afiliação
  • Timberlake AT; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org.
  • Griffin C; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.
  • Heike CL; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Hing AV; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
  • Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Chitayat D; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
  • Davis MR; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Doust SJ; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
  • Drake AF; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Duenas-Roque MM; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
  • Goldblatt J; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.
  • Gustafson JA; Genetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada.
  • Hurtado-Villa P; Department of Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA.
  • Johns A; Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru.
  • Karp N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
  • Laing NG; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
  • Magee L; Pontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia.
  • Mullegama SV; Department of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University, London, ON, Canada.
  • Pachajoa H; Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Porras-Hurtado GL; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Slee J; GeneDx, Gaithersburg, MD, USA.
  • Singer SL; Universidad Icesi and Fundacion Clinica Valle del Lili, Cali, Colombia.
  • Staffenberg DA; Clinica Comfamiliar Risaralda, Pereira, Colombia.
  • Timms AE; GeneDx, Gaithersburg, MD, USA.
  • Wise CA; Dept of Pediatrics, Cooper Medical School of Rowan University; Division of Genetics, Cooper University Health Care, Camden, NJ, USA.
  • Zarante I; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
  • Saint-Jeannet JP; Perth Children's Hospital, Nedlands, WA, Australia.
  • Luquetti DV; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA.
Nat Commun ; 12(1): 4680, 2021 08 03.
Article em En | MEDLINE | ID: mdl-34344887
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Haploinsuficiência / Fatores de Processamento de RNA / Síndrome de Goldenhar Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Haploinsuficiência / Fatores de Processamento de RNA / Síndrome de Goldenhar Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos