ReviewMolecular genetics & genomic medicine2019
Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.
Review in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Growth outcomes following recombinant human growth hormone therapy in Zhu-Tokita-Takenouchi-Kim syndrome.JCEM case reports · 2026Article
- Article
- [Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.BMC pediatrics · 2024Article
- A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.JCI insight · 2024Article
- A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.bioRxiv : the preprint server for biology · 2023Article
- Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.Molecular genetics & genomic medicine · 2023Review
- Article
- Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.Neurology. Genetics · 2023Article
- Review
- Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.Frontiers in genetics · 2023Article
- Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novelClinical case reports · 2022Article
- Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report.Children (Basel, Switzerland) · 2022Article
- Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.European journal of human genetics : EJHG · 2022Article
- ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.American journal of medical genetics. Part A · 2021Article
- Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.Scientific reports · 2021Article
- A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.Molecular genetics & genomic medicine · 2020Article
- Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.Molecular genetics & genomic medicine · 2020Article
- Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.Molecular brain · 2020Article
- Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.Molecular genetics & genomic medicine · 2019Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe present study aims to summarize the clinical and genetic characteristics of ZTTK syndrome.
methodsThe clinical and genetic data of a Chinese girl with severe growth and development delay, intellectual disability, and facial features were analyzed. Original articles on ZTTK syndrome published up to November 20l8 were identified from PubMed, Human Gene Mutation Database, Online Mendelian Inheritance in Man, China National Knowledge Infrastructure, and WanFang databases using the keywords "ZTTK syndrome" and "SON".
resultsThe patient was born small for gestational age, and had poor academic performance, delayed language development, and motor retardation. The patient's height was 113 cm (less than -3 SD), and had moles on the back skin and possessed facial features. A novel heterozygous mutation c.394C>T (p.Q132X) of SON was found in this patient, but the parents were normal.
conclusionThe patient's clinical phenotype was consistent with ZTTK syndrome. The novel heterozygous mutation c.394C>T (p.Q132X) of SON was its pathogenic mutation, which has not been reported at home and abroad.
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