Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu - PubMed (original) (raw)

Case Reports

. 2016 Jan;170A(1):266-9.

doi: 10.1002/ajmg.a.37387. Epub 2015 Sep 30.

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• PMID: 26420734
• DOI: 10.1002/ajmg.a.37387

Case Reports

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

Anna Hammarsjö et al. Am J Med Genet A. 2016 Jan.

No abstract available

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