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. Epub 2015 Sep 30.

Anna Hammarsjö^{1

2}, Ann Nordgren^{1

2}, Kristina Lagerstedt-Robinson^{1

2}, Helena Malmgren^{1

2}, Daniel Nilsson³, Sara Wedrén⁴, Magnus Nordenskjöld^{1

2}, Gen Nishimura⁵, Giedre Grigelioniene^{1

2}

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.

No abstract available

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