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

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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 2014-09-08]

PubMed 25060605

DOI 10.1111/cge.12466

Crossref 10.1111/cge.12466