title: Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
authors: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors: E
authors: E
authors: Tham
authors: G
authors: G
authors: Nishimura
authors: S
authors: S
authors: Geiberger
authors: E
authors: E
authors: Horemuzova
authors: D
authors: D
authors: Nilsson
authors: A
authors: A
authors: Lindstrand
authors: A
authors: A
authors: Hammarsjö
authors: M
authors: M
authors: Armenio
authors: O
authors: O
authors: Mäkitie
authors: B
authors: B
authors: Zabel
authors: A
authors: A
authors: Nordgren
authors: M
authors: M
authors: Nordenskjöld
authors: G
authors: G
authors: Grigelioniene
mesh_terms: D002648:Child; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D013131:Spine / Q000473:pathology
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II