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Journal Abstract Search

148 related items for PubMed ID: 35315044

  • 1. [Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
    Xin H, Zhao J, Lyu Y, Yang Y, Li Z, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar 10; 39(3):316-320. PubMed ID: 35315044
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  • 2. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R.
    Mol Genet Genomic Med; 2020 Oct 10; 8(10):e1432. PubMed ID: 32705777
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  • 5. 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 10; 34(8):e23326. PubMed ID: 32291808
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  • 7. 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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  • 13. 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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  • 14. Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings.
    Eid M, Bhatia S.
    Child Neurol Open; 2022 Nov 17; 9():2329048X221119658. PubMed ID: 36387043
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  • 18. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Shen Y, Luo G, Lu C, Tan Y, Cheng T, Qian X, Li N, Luo M, Cao Z, Ma X, Zhao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan 10; 40(1):57-61. PubMed ID: 36585002
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  • 19. Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.
    El-Said A, Morales JL, Rossi G, Longani N.
    Neurol Genet; 2023 Jun 10; 9(3):e200072. PubMed ID: 37168776
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