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. |
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| 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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| ISSN: | 1661-8769 |
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| DOI: | 10.1159/000538039 |
