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An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Mackenroth, Luisa; Fischer-Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise.
Affiliation
  • Mackenroth L; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Fischer-Zirnsak B; Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, Dresden, Germany.
  • Egerer J; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Hecht J; Max-Planck-Institut für Molekulare Genetik, Berlin, Germany.
  • Kallinich T; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Stenzel W; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Spors B; Department of Pediatric Pneumology and Immunology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • von Moers A; Institute for Neuropathology, Charité, Universitätsmedizin Berlin, Berlin, Germany.
  • Mundlos S; Department of Radiology, Charité, Universitätsmedizin Berlin, Berlin, Germany.
  • Kornak U; Children's Hospital, DRK-Kliniken Westend, Berlin, Germany.
  • Gerhold K; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Horn D; Max-Planck-Institut für Molekulare Genetik, Berlin, Germany.
Am J Med Genet A ; 170A(4): 1080-5, 2016 Apr.
Article in En | MEDLINE | ID: mdl-26799614
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Phenotype / Tenascin / Collagen Type I / Ehlers-Danlos Syndrome / Heterozygote / Mutation Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Phenotype / Tenascin / Collagen Type I / Ehlers-Danlos Syndrome / Heterozygote / Mutation Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Country of publication: