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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-29350460
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 2 / Eliminación de Gen / Aneurisma de la Aorta Torácica / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / 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
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 2 / Eliminación de Gen / Aneurisma de la Aorta Torácica / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / 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