Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G

Clin. Genet. 87 (5) 496-498 [2015-05-00; online 2014-07-26]

NGI Stockholm (Genomics Applications)

NGI Stockholm (Genomics Production)

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PubMed 25060605

DOI 10.1111/cge.12466

Crossref 10.1111/cge.12466