Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
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
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST et al.
American Journal of Medical Genetics. Part A, 2021
Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion.
Dinh K et al.
American Journal of Medical Genetics. Part A, 2020
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
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kim JH et al.
Kidney International, 2019
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
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
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