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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Scott, Tiana M; Guo, Hui; Eichler, Evan E; Rosenfeld, Jill A; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A; Streff, Haley; Lewis, Andrea M; Koenig, Mary K; Thiffault, Isabelle; Bellomo, Allison; Everman, David B; Jones, Julie R; Stevenson, Roger E; Bernier, Raphael; Gilissen, Christian; Pfundt, Rolph; Hiatt, Susan M; Cooper, Gregory M; Holder, Jimmy L; Scott, Daryl A.
Afiliação
  • Scott TM; Brigham Young University, Provo, Utah.
  • Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Eichler EE; Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Center for Medical Genetics, Central Southern University, Changsha, Hunan, China.
  • Rosenfeld JA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Pang K; Howard Hughes Medical Institute, University of Washington, Seattle, Washington.
  • Liu Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lalani S; Department of Pediatrics and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Bi W; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Yang Y; Department of Pediatrics and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Bacino CA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Koenig MK; Baylor Genetics, Houston, Texas.
  • Thiffault I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bellomo A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Everman DB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Jones JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Stevenson RE; Department of Pediatrics, McGovern Medical School, The University of Texas Health Sciences Center at Houston, Houston, Texas.
  • Bernier R; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
  • Gilissen C; Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, Missouri.
  • Pfundt R; Greenwood Genetic Center, Greenwood, South Carolina.
  • Hiatt SM; Greenwood Genetic Center, Greenwood, South Carolina.
  • Cooper GM; Greenwood Genetic Center, Greenwood, South Carolina.
  • Holder JL; Greenwood Genetic Center, Greenwood, South Carolina.
  • Scott DA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
Hum Mutat ; 41(5): 921-925, 2020 05.
Article em En | MEDLINE | ID: mdl-31999386
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fatores Genéricos de Transcrição / Haploinsuficiência / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fatores Genéricos de Transcrição / Haploinsuficiência / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article