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4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.
Gaspar, Harald; Lutz, Bernd; Reicherter, Kerstin; Lühl, Simon; Taurman, Rita; Gabriel, Heinz; Brenner, Rolf E; Borck, Guntram.
Afiliação
  • Gaspar H; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Lutz B; Department of Orthopedics, University of Ulm, Ulm, Germany.
  • Reicherter K; Center for Genomics and Transcriptomics and Praxis fuer Humangenetik Tuebingen, Tuebingen, Germany.
  • Lühl S; Division of Pediatric Neurology, Children's Hospital, University of Ulm, Ulm, Germany.
  • Taurman R; Department of Orthopedics, University of Ulm, Ulm, Germany.
  • Gabriel H; Center for Genomics and Transcriptomics and Praxis fuer Humangenetik Tuebingen, Tuebingen, Germany.
  • Brenner RE; Division for Biochemistry of Joint and Connective Tissue Diseases, Department of Orthopedics, University of Ulm, Ulm, Germany.
  • Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany.
Am J Med Genet A ; 173(8): 2289-2292, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28544325
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteoporose / Deleção de Sequência / Fator de Crescimento Transformador beta2 / Síndrome de Loeys-Dietz Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteoporose / Deleção de Sequência / Fator de Crescimento Transformador beta2 / Síndrome de Loeys-Dietz Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha