{"entity": "publication", "iuid": "568c8a1dbacc4b2fbf572abcbe5346a9", "timestamp": "2026-07-22T13:45:13.993Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/568c8a1dbacc4b2fbf572abcbe5346a9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/568c8a1dbacc4b2fbf572abcbe5346a9"}}, "title": "Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.", "authors": [{"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Wedr\u00e9n", "given": "Sara", "initials": "S"}, {"family": "Nordenskj\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G"}], "type": "case reports", "published": "2016-01-00", "journal": {"volume": "170A", "issn": "1552-4833", "issue": "1", "pages": "266-269", "title": "Am. J. Med. Genet. A", "issn-l": "1552-4825"}, "abstract": null, "doi": "10.1002/ajmg.a.37387", "pmid": "26420734", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "Clinical Genomics Stockholm": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2017-05-02T12:56:31.054Z", "modified": "2024-01-16T13:48:50.638Z"}