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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J.
Afiliação
  • Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Briere LC; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Liu F; Department of Pediatrics, Bethune International Peace Hospital, Shijiazhuang 050082, Hebei, China.
  • Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands.
  • Wang X; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.
  • Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
  • Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.
Am J Hum Genet ; 109(10): 1923-1931, 2022 10 06.
Article em En | MEDLINE | ID: mdl-36067766
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article