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A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Jeffries, Lauren; Shima, Hirohito; Ji, Weizhen; Panisello-Manterola, David; McGrath, James; Bird, Lynne M; Konstantino, Monica; Narumi, Satoshi; Lakhani, Saquib.
Afiliación
  • Jeffries L; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
  • Shima H; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Ji W; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Panisello-Manterola D; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
  • McGrath J; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
  • Bird LM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Konstantino M; Department of Pediatrics, Division of Genetics/Dysmorphology, UC San Diego and Rady Children's Hospital, San Diego, California.
  • Narumi S; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
  • Lakhani S; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Am J Med Genet A ; 176(2): 415-420, 2018 02.
Article en En | MEDLINE | ID: mdl-29266745
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Proteínas / Insuficiencia Suprarrenal Tipo de estudio: Screening_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Proteínas / Insuficiencia Suprarrenal Tipo de estudio: Screening_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article