2. Academic Validation
  3. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu

  • Am J Med Genet A. 2016 Jan;170A(1):266-9. doi: 10.1002/ajmg.a.37387.
Anna Hammarsjö 1 2,  Ann Nordgren 1 2,  Kristina Lagerstedt-Robinson 1 2,  Helena Malmgren 1 2,  Daniel Nilsson 3,  Sara Wedrén 4,  Magnus Nordenskjöld 1 2,  Gen Nishimura 5,  Giedre Grigelioniene 1 2
Affiliations

Affiliations

  • 1 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • 2 Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • 3 Department of Clinical Genetics, Karolinska University Hospital, Karolinska Institutet, Science Park, Science for Life Laboratory, Solna, Sweden.
  • 4 Department of Medicine, Karolinska University Hospital, Rheumatology Unit, Stockholm, Sweden.
  • 5 Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
PMID: 26420734 DOI: 10.1002/ajmg.a.37387
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