title: Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Hammarsjö
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Ann
authors.initials: A
authors.lastname: Nordgren
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Kristina
authors.initials: K
authors.lastname: Lagerstedt-Robinson
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Helena
authors.initials: H
authors.lastname: Malmgren
authors.affiliation: Department of Clinical Genetics, Karolinska University Hospital, Karolinska Institutet, Science Park, Science for Life Laboratory, Solna, Sweden.
authors.forename: Daniel
authors.initials: D
authors.lastname: Nilsson
authors.affiliation: Department of Medicine, Karolinska University Hospital, Rheumatology Unit, Stockholm, Sweden.
authors.forename: Sara
authors.initials: S
authors.lastname: Wedrén
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Giedre
authors.initials: G
authors.lastname: Grigelioniene
mesh_terms: D000328:Adult; D019644:Arthroplasty, Replacement, Hip; D019645:Arthroplasty, Replacement, Knee; D024043:Collagen Type II / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D055815:Young Adult
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II