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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A.
Affiliation
  • Tokita MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA.
  • Braxton AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA.
  • Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France.
  • Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France.
  • Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France.
  • Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France; INSERM UMR-S 957, 1 Rue Gaston Veil, 44035 Nantes, France.
  • Latypova X; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France.
  • Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes Cedex 1, France.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA.
  • Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH 44302, USA.
  • Melver CW; Genetic Center, Akron Children's Hospital, Akron, OH 44302, USA.
  • Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Infante EM; University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
  • McGuire M; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA; University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
  • El-Gharbawy A; University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
  • Littlejohn RO; Children's Hospital of San Antonio, San Antonio, TX 78207, USA.
  • McLean SD; Children's Hospital of San Antonio, San Antonio, TX 78207, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: schaaf@bcm.edu.
  • Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA. Electronic address: mwalkiew@bcm.edu.
Am J Hum Genet ; 99(3): 720-727, 2016 09 01.
Article in En | MEDLINE | ID: mdl-27545676
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Full text: 1 Database: MEDLINE Main subject: Congenital Abnormalities / Minor Histocompatibility Antigens / Developmental Disabilities / Sequence Deletion / DNA-Binding Proteins / Failure to Thrive / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2016 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Congenital Abnormalities / Minor Histocompatibility Antigens / Developmental Disabilities / Sequence Deletion / DNA-Binding Proteins / Failure to Thrive / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2016 Type: Article