Associated Papers
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.
Ates K et al.
Molecular Syndromology, 2025
A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Vukadin L et al.
Biorxiv : the Preprint Server for Biology, 2023
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
Tang S et al.
Molecular Genetics & Genomic Medicine, 2023
37488749 (PubMed )
Supplement: MGG3-11-e2188-s001.xls › Sheet
Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
Vasquez-Forero DM et al.
Frontiers in Genetics, 2023
A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
Yang L et al.
Molecular Genetics & Genomic Medicine, 2020
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R et al.
Molecular Genetics & Genomic Medicine, 2020
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Ueda M et al.
Molecular Brain, 2020
Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.
Yang Y et al.
Molecular Genetics & Genomic Medicine, 2019
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