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
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 novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
Yi Z et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM et al.
European Journal of Human Genetics : Ejhg, 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
32926520 (PubMed )
Supplement: MGG3-8-e1496-s001.docx
Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.
Quintana Castanedo L et al.
Pediatric Dermatology, 2020
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