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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; Dobyns, William B.
Afiliação
  • Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany. nataliya.didonato@uniklinikum-dresden.de.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
  • Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
  • Heinritz W; Praxis für Humangenetik Cottbus, Cottbus, Germany.
  • Bodurtha J; Medical College of Virginia, Department of Human and Molecular Genetics, Richmond, Virginia.
  • Merchant SR; Department of Pediatric Neurology, New York Presbyterian Hospital and Weill Cornell Medical College, New York, New York.
  • Breningstall G; Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, Minnesota.
  • Ladda R; Penn State Hershey Children's Hospital, Hershey, Pennsylvania.
  • Sell S; Penn State Hershey Children's Hospital, Hershey, Pennsylvania.
  • Altmüller J; Cologne Center for Genomics, Cologne, Germany.
  • Bögershausen N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.
  • Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Schrock E; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Olds C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Rump A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Am J Med Genet A ; 170(10): 2644-51, 2016 10.
Article em En | MEDLINE | ID: mdl-27240540

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Actinas / Anormalidades Craniofaciais / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Actinas / Anormalidades Craniofaciais / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Ano de publicação: 2016 Tipo de documento: Article