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A novel mutation in EED associated with overgrowth.
Cohen, Ana S A; Tuysuz, Beyhan; Shen, Yaoqing; Bhalla, Sanjiv K; Jones, Steven J M; Gibson, William T.
Afiliação
  • Cohen AS; 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
  • Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Shen Y; Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada.
  • Bhalla SK; Department of Radiology, Surrey Memorial Hospital, Surrey, BC, Canada.
  • Jones SJ; 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada [3] Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada.
  • Gibson WT; 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
J Hum Genet ; 60(6): 339-42, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25787343
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Anormalidades Craniofaciais / Hipotireoidismo Congênito / Complexo Repressor Polycomb 2 / Transtornos do Crescimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Anormalidades Craniofaciais / Hipotireoidismo Congênito / Complexo Repressor Polycomb 2 / Transtornos do Crescimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article