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
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
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
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 et al.
Child Neurology Open, 0
Select a paper to view details