Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

作者:Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G*
来源:Clinical Genetics, 2015, 87(5): 496-498.
DOI:10.1111/cge.12466