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Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.
Samudrala, Sai Suma K; North, Lauren M; Stamm, Karl D; Earing, Michael G; Frommelt, Michele A; Willes, Richard; Tripathi, Swarnendu; Dsouza, Nikita R; Zimmermann, Michael T; Mahnke, Donna K; Liang, Huan Ling; Lund, Michael; Lin, Chien-Wei; Geddes, Gabrielle C; Mitchell, Michael E; Tomita-Mitchell, Aoy.
Afiliação
  • Samudrala SSK; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA.
  • North LM; Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Stamm KD; Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Earing MG; Department of Pediatrics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Frommelt MA; Herma Heart Institute, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Willes R; Department of Pediatrics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Tripathi S; Herma Heart Institute, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Dsouza NR; Department of Pediatrics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Zimmermann MT; Bioinformatics Research and Developmental Lab, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Mahnke DK; Bioinformatics Research and Developmental Lab, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Liang HL; Bioinformatics Research and Developmental Lab, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Lund M; Clinical and Translational Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Lin CW; Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Geddes GC; Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Mitchell ME; Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Tomita-Mitchell A; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI, USA.
Mol Genet Genomic Med ; 8(4): e1152, 2020 04.
Article em En | MEDLINE | ID: mdl-31985165
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anomalia de Ebstein / Mutação com Perda de Função / Cardiopatias Congênitas Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anomalia de Ebstein / Mutação com Perda de Função / Cardiopatias Congênitas Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos