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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Stern, D; Cho, M T; Chikarmane, R; Willaert, R; Retterer, K; Kendall, F; Deardorff, M; Hopkins, S; Bedoukian, E; Slavotinek, A; Schrier Vergano, S; Spangler, B; McDonald, M; McConkie-Rosell, A; Burton, B K; Kim, K H; Oundjian, N; Kronn, D; Chandy, N; Baskin, B; Guillen Sacoto, M J; Wentzensen, I M; McLaughlin, H M; McKnight, D; Chung, W K.
Afiliação
  • Stern D; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Chikarmane R; GeneDx, Gaithersburg, MD, USA.
  • Willaert R; GeneDx, Gaithersburg, MD, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
  • Kendall F; VMP Genetics, Roswell, GA, USA.
  • Deardorff M; Department of Kinesiology, University of Georgia, Athens, GA, USA.
  • Hopkins S; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bedoukian E; Division of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Slavotinek A; Individualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Schrier Vergano S; Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
  • Spangler B; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • McDonald M; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Burton BK; Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Kim KH; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Oundjian N; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Kronn D; Valley Hospital, Ridgewood, NJ, USA.
  • Chandy N; New York Medical College, Valhalla, NY, USA.
  • Baskin B; New York Medical College, Valhalla, NY, USA.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
  • McLaughlin HM; GeneDx, Gaithersburg, MD, USA.
  • McKnight D; GeneDx, Gaithersburg, MD, USA.
  • Chung WK; GeneDx, Gaithersburg, MD, USA.
Clin Genet ; 92(2): 221-223, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28111752
Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Predisposição Genética para Doença / Proteínas de Transporte Vesicular / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Predisposição Genética para Doença / Proteínas de Transporte Vesicular / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos