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Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
Quiñones-Pérez, Bianca; VanNoy, Grace E; Towne, Meghan C; Shen, Yiping; Singh, Michael N; Agrawal, Pankaj B; Smith, Sharon E.
Afiliação
  • Quiñones-Pérez B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • VanNoy GE; Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
  • Towne MC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Shen Y; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Singh MN; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Agrawal PB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Smith SE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet A ; 176(3): 560-569, 2018 03.
Article em En | MEDLINE | ID: mdl-29350460

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 2 / Deleção de Genes / Aneurisma da Aorta Torácica / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 2 / Deleção de Genes / Aneurisma da Aorta Torácica / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article