{"entity": "publication", "iuid": "99be422eed104163866593649419453e", "timestamp": "2026-09-06T11:03:20.031Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/99be422eed104163866593649419453e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/99be422eed104163866593649419453e"}}, "title": "Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.", "authors": [{"family": "Tham", "given": "E", "initials": "E"}, {"family": "Nishimura", "given": "G", "initials": "G"}, {"family": "Geiberger", "given": "S", "initials": "S"}, {"family": "Horemuzova", "given": "E", "initials": "E"}, {"family": "Nilsson", "given": "D", "initials": "D"}, {"family": "Lindstrand", "given": "A", "initials": "A"}, {"family": "Hammarsj\u00f6", "given": "A", "initials": "A"}, {"family": "Armenio", "given": "M", "initials": "M"}, {"family": "M\u00e4kitie", "given": "O", "initials": "O"}, {"family": "Zabel", "given": "B", "initials": "B"}, {"family": "Nordgren", "given": "A", "initials": "A"}, {"family": "Nordenskj\u00f6ld", "given": "M", "initials": "M"}, {"family": "Grigelioniene", "given": "G", "initials": "G"}], "type": "case reports", "published": "2015-05-00", "journal": {"title": "Clin. Genet.", "issn": "1399-0004", "volume": "87", "issue": "5", "pages": "496-498", "issn-l": "0009-9163"}, "abstract": null, "doi": "10.1111/cge.12466", "pmid": "25060605", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T12:18:08.854Z", "modified": "2026-08-21T12:18:08.882Z"}