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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.
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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PubType: Academic Journal
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  Data: A monoallelic UXS1 variant associated with short-limbed short stature.
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  Data: <searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Backe+PH%22">Backe PH</searchLink>; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Jin+C%22">Jin C</searchLink>; Proteomics Core Facility at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Merckoll+E%22">Merckoll E</searchLink>; Unilabs Radiology Norway, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Maciej-Hulme+ML%22">Maciej-Hulme ML</searchLink>; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Karlsson+N%22">Karlsson N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Prescott+T%22">Prescott T</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Sand+ES%22">Sand ES</searchLink>; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Woldseth+B%22">Woldseth B</searchLink>; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Elgstøen+KBP%22">Elgstøen KBP</searchLink>; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Holla+ØL%22">Holla ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
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  Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2472.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38860481
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        Value: 10.1002/mgg3.2472
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        Text: English
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              M: 06
              Text: 2024 Jun
              Type: published
              Y: 2024
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