Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene-Reference-Cited by-同舟云学术

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

Published:2020-07-24 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Slezak Ryszard¹^ORCID,Smigiel Robert²,Rydzanicz Malgorzata³,Pollak Agnieszka³,Kosinska Joanna³,Stawinski Piotr³,Malgorzata Sasiadek Maria¹,Ploski Rafal³^ORCID

Affiliation:

1. Department of Genetics Wroclaw Medical University Wroclaw Poland

2. Department of Pediatrics and Rare Disorders Wroclaw Medical University Wroclaw Poland

3. Department of Medical Genetics Medical University of Warsaw Warsaw Poland

Funder

Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1432

Reference9 articles.

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

2. Genome sequencing identifies major causes of severe intellectual disability

3. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

4. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

5. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

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1. Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu‐Tokita‐Takenouchi‐Kim Syndrome;Prenatal Diagnosis;2024-09-02

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

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

4. Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome;ANASTH INTENSIVMED;2023

5. 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;2023-07-24