Associated Papers
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
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
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