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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Dines, Jennifer N; Liu, Yajuan J; Neufeld-Kaiser, Whitney; Sawyer, Taylor; Ishak, Gisele E; Tully, Hannah M; Racobaldo, Melissa; Sanchez-Valle, Amarilis; Disteche, Christine M; Juusola, Jane; Torti, Erin; McWalter, Kirsty; Doherty, Dan; Dipple, Katrina M.
Afiliación
  • Dines JN; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.
  • Liu YJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.
  • Neufeld-Kaiser W; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
  • Sawyer T; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
  • Ishak GE; Department of Pediatrics, Division of Neonatology, University of Washington, Seattle, Washington.
  • Tully HM; Department of Radiology, University of Washington, Seattle Children's Hospital, Seattle, Washington.
  • Racobaldo M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Sanchez-Valle A; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington.
  • Disteche CM; Division of Genetics and Metabolism, University of South Florida, Tampa, Florida.
  • Juusola J; Division of Genetics and Metabolism, University of South Florida, Tampa, Florida.
  • Torti E; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.
  • McWalter K; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
  • Doherty D; GeneDx, Inc., Gaithersburg, Maryland.
  • Dipple KM; GeneDx, Inc., Gaithersburg, Maryland.
Am J Med Genet A ; 179(9): 1783-1790, 2019 09.
Article en En | MEDLINE | ID: mdl-31294511
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Constricción Patológica / Factor Nuclear 3-beta del Hepatocito / Hipopituitarismo Límite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Constricción Patológica / Factor Nuclear 3-beta del Hepatocito / Hipopituitarismo Límite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article