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Journal Abstract Search

140 related items for PubMed ID: 38566089

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  • 6. The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
    Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G.
    Genes (Basel); 2023 Mar 17; 14(3):. PubMed ID: 36981010
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  • 11. A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
    Tan Y, Duan L, Yang K, Liu Q, Wang J, Dong Z, Li Z, He Y, Yan Y, Lin L.
    J Clin Lab Anal; 2020 Aug 17; 34(8):e23326. PubMed ID: 32291808
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  • 12. Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.
    Yang Y, Xu L, Yu Z, Huang H, Yang L.
    Mol Genet Genomic Med; 2019 Nov 17; 7(11):e953. PubMed ID: 31557424
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  • 17. Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
    Vasquez-Forero DM, Masotto B, Ferrer-Avargues R, Moya CM, Pachajoa H.
    Front Genet; 2023 Nov 17; 14():1183362. PubMed ID: 37476413
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  • 20. A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
    Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Sah JP, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE, Lim SS, Ahn EE.
    JCI Insight; 2024 Mar 08; 9(5):. PubMed ID: 38290089
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