A monoallelic UXS1 variant associated with short-limbed short stature.
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| Title: | A monoallelic UXS1 variant associated with short-limbed short stature. |
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| Authors: | Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway., Backe PH; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Jin C; Proteomics Core Facility at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Merckoll E; Unilabs Radiology Norway, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Maciej-Hulme ML; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway., Karlsson N; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Sand ES; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Woldseth B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Elgstøen KBP; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2472. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2324-9269 |
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| DOI: | 10.1002/mgg3.2472 |
