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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Strong, Alanna; Skraban, Cara; Meyers, Kevin; Amaral, Sandra; Furth, Susan; Drant, Stacey; Hsiao, Wendy; Galea, Lauren; Gold, Jessica; Gold, Nina B; Leonard, Jacqueline; Lopez, Sonya; Zackai, Elaine H; Pyeritz, Reed E.
Afiliação
  • Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Skraban C; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Meyers K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Amaral S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Furth S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Drant S; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hsiao W; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Galea L; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Gold J; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Gold NB; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Leonard J; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Lopez S; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zackai EH; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Pyeritz RE; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 185(12): 3762-3769, 2021 12.
Article em En | MEDLINE | ID: mdl-34355836
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Proteína Smad2 / Aracnodactilia / Síndrome de Loeys-Dietz / Fibrilina-2 / Receptor do Fator de Crescimento Transformador beta Tipo I Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Proteína Smad2 / Aracnodactilia / Síndrome de Loeys-Dietz / Fibrilina-2 / Receptor do Fator de Crescimento Transformador beta Tipo I Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos