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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Shang, Linshan; Henderson, Lindsay B; Cho, Megan T; Petrey, Donald S; Fong, Chin-To; Haude, Katrina M; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K.
Afiliación
  • Shang L; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  • Henderson LB; GeneDx, Gaithersburg, MD, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Petrey DS; Department of Biochemistry and Molecular Biophysics, Columbia University Medical Center, New York, NY, USA.
  • Fong CT; University of Rochester Medical Center, Rochester, NY, USA.
  • Haude KM; University of Rochester Medical Center, Rochester, NY, USA.
  • Shur N; Albany Medical Center, Albany, NY, USA.
  • Lundberg J; Albany Medical Center, Albany, NY, USA.
  • Hauser N; Valley Children's Hospital, Madera, CA, USA.
  • Carmichael J; Valley Children's Hospital, Madera, CA, USA.
  • Innis J; Division of Pediatric Genetics, University of Michigan Health System, Ann Arbor, MI, USA.
  • Schuette J; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Wu YW; Division of Pediatric Genetics, University of Michigan Health System, Ann Arbor, MI, USA.
  • Asaikar S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Pearson M; Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Folk L; Child and Adolescent Neurology Consultants, Sacramento, CA, USA.
  • Retterer K; District Medical Group, Scottsdale, AZ, USA.
  • Monaghan KG; GeneDx, Gaithersburg, MD, USA.
  • Chung WK; GeneDx, Gaithersburg, MD, USA.
Neurogenetics ; 17(1): 43-9, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26576547
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Mutación Missense / Proteína Fosfatasa 2 / Megalencefalia / Discapacidad Intelectual / Hipotonía Muscular Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Mutación Missense / Proteína Fosfatasa 2 / Megalencefalia / Discapacidad Intelectual / Hipotonía Muscular Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos