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A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
Madan, Simran; Liu, Wei; Lu, James T; Sutton, V Reid; Toth, Bryant; Joe, Priscilla; Waterson, John R; Gibbs, Richard A; Van den Veyver, Ignatia B; Lammer, Edward J; Campeau, Philippe M; Lee, Brendan H.
Afiliação
  • Madan S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu W; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA.
  • Lu JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sutton VR; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.
  • Toth B; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Joe P; Department of Structural and Computational Biology & Molecular Biophysics, Baylor College of Medicine, Houston, TX, USA.
  • Waterson JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Gibbs RA; Children's Hospital & Research Center, Oakland, CA, USA.
  • Van den Veyver IB; Children's Hospital & Research Center, Oakland, CA, USA.
  • Lammer EJ; Children's Hospital & Research Center, Oakland, CA, USA.
  • Campeau PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lee BH; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Mol Genet Metab Rep ; 12: 57-61, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28626639
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos