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A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

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Title: A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
Authors: Mughal TA; Department of Zoology, Women University of Azad Jammu and Kashmir, Bagh, Pakistan., Asim M; Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Gillani SHUH; Polyclinic Hospital, Islamabad, Pakistan., Chughtai NO; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan., Batool SA; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan., Hussain A; Pakistan Museum of Natural History, Islamabad, Pakistan., Shujaat K; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan., Gilani SZT; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
Source: Molecular syndromology [Mol Syndromol] 2024 Oct; Vol. 15 (5), pp. 355-361. Date of Electronic Publication: 2024 Mar 27.
Publication Type: Journal Article
Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
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  Data: <searchLink fieldCode="AU" term="%22Mughal+TA%22">Mughal TA</searchLink>; Department of Zoology, Women University of Azad Jammu and Kashmir, Bagh, Pakistan.<br /><searchLink fieldCode="AU" term="%22Asim+M%22">Asim M</searchLink>; Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Gillani+SHUH%22">Gillani SHUH</searchLink>; Polyclinic Hospital, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Chughtai+NO%22">Chughtai NO</searchLink>; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.<br /><searchLink fieldCode="AU" term="%22Batool+SA%22">Batool SA</searchLink>; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.<br /><searchLink fieldCode="AU" term="%22Hussain+A%22">Hussain A</searchLink>; Pakistan Museum of Natural History, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Shujaat+K%22">Shujaat K</searchLink>; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.<br /><searchLink fieldCode="AU" term="%22Gilani+SZT%22">Gilani SZT</searchLink>; Department of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
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  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2024 Oct; Vol. 15 (5), pp. 355-361. <i>Date of Electronic Publication: </i>2024 Mar 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE
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      – Type: doi
        Value: 10.1159/000538039
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      – Code: eng
        Text: English
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        StartPage: 355
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      – TitleFull: A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
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            NameFull: Mughal TA
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            NameFull: Asim M
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            – D: 01
              M: 10
              Text: 2024 Oct
              Type: published
              Y: 2024
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              Value: 1661-8769
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              Value: 15
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              Value: 5
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            – TitleFull: Molecular syndromology
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