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
Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.
Na J et al.
Bmc Pediatrics, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
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
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ et al.
Ajnr. American Journal of Neuroradiology, 2022
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
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
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Tokita MJ et al.
American Journal of Human Genetics, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH et al.
American Journal of Human Genetics, 2016
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