Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T-Reference-Cited by-同舟云学术

Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T

Published:2019-09-26 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yang Yu¹^ORCID,Xu Lei¹^ORCID,Yu Zhen¹,Huang Hui²^ORCID,Yang Li¹

Affiliation:

1. Department of Endocrinology, Metabolism, and Genetics Affiliated Children's Hospital of Nanchang university, Nanchang shi, Jiangxi Sheng, people's Republic of China Nanchang Jiangxi China

2. Central Laboratory Non‐directly Affiliated Hospital of Nanchang University, Jiangxi Provincial Children’s Hospital Nanchang Jiangxi China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.953

Reference20 articles.

1. SON Controls Cell-Cycle Progression by Coordinated Regulation of RNA Splicing

2. SON Protein Regulates GATA-2 through Transcriptional Control of the MicroRNA 23a∼27a∼24-2 Cluster*

3. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

4. Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size

5. Large-scale discovery of novel genetic causes of developmental disorders

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3. Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report;BMC Pediatrics;2024-04-02

4. A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis;JCI Insight;2024-01-30

5. A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis;2023-11-19