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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L; Lee, Paul C; Zhang, Li Q; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L; Mononen, Tarja; Piccoli, David; Pfundt, Rolph; Raskin, Salmo; Scherer, Stephen W; Sobriera, Nara; Vaccaro, Courtney; Wang, Xiang; Watson, Deborah; Weksberg, Rosanna; Bhoj, Elizabeth; Murray, Jeffrey C; Lidral, Andrew C; Butali, Azeez; Buckley, Michael F; Roscioli, Tony; Koolen, David A; Seaver, Laurie H; Prows, Cynthia A; Stottmann, Rolf W; Cox, Timothy C.
Afiliação
  • Strong A; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Rao S; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • von Hardenberg S; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Li D; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.
  • Cox LL; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Lee PC; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zhang LQ; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Awotoye W; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Diamond T; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.
  • Gold J; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
  • Gooch C; Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri, USA.
  • Gowans LJJ; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa, USA.
  • Hakonarson H; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Hing A; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Loomes K; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Martin N; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
  • Marazita ML; Department of Biochemistry and Biotechnology, Kwame Nkurumah University of Science and Technology, Kumasi, Ghana.
  • Mononen T; The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Piccoli D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Pfundt R; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Raskin S; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Scherer SW; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Sobriera N; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Vaccaro C; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Wang X; Division of Clinical & Metabolic Genetics and Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Watson D; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Weksberg R; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics School of Dental Medicine, Pittsburgh, Pennsylvania, USA.
  • Bhoj E; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Murray JC; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland.
  • Lidral AC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Butali A; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Buckley MF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roscioli T; Assistance Center for Cleft Lip and Palate (CAIF), Curitiba, Parana, Brazil.
  • Koolen DA; The Centre for Applied Genomics and Department of Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Seaver LH; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Prows CA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Stottmann RW; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Cox TC; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 191(5): 1227-1239, 2023 05.
Article em En | MEDLINE | ID: mdl-36751037
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Cardiopatias Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Cardiopatias Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos