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Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker, Samuel W; Duffy, Kelly A; Richards-Yutz, Jennifer; Deardorff, Matthew A; Kalish, Jennifer M; Ganguly, Arupa.
Afiliação
  • Baker SW; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Duffy KA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Richards-Yutz J; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kalish JM; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Ganguly A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA ganguly@pennmedicine.upenn.edu kalishj@email.chop.edu.
J Med Genet ; 58(3): 178-184, 2021 03.
Article em En | MEDLINE | ID: mdl-32430359

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Impressão Genômica / Inibidor de Quinase Dependente de Ciclina p57 / Mosaicismo Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Impressão Genômica / Inibidor de Quinase Dependente de Ciclina p57 / Mosaicismo Idioma: En Ano de publicação: 2021 Tipo de documento: Article