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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski, Przemyslaw; Coban-Akdemir, Zeynep H; Rupps, Rosemarie; Grazioli, Serge; Wensley, David; Jhangiani, Shalini N; Popek, Edwina; Lee, Anna F; Lupski, James R; Boerkoel, Cornelius F; Stankiewicz, Pawel.
Afiliación
  • Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Grazioli S; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
  • Wensley D; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.
  • Lee AF; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Boerkoel CF; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • Stankiewicz P; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 170(9): 2440-4, 2016 09.
Article en En | MEDLINE | ID: mdl-27374786

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Dominio T Box / Estudios de Asociación Genética / Pulmón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Dominio T Box / Estudios de Asociación Genética / Pulmón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article