A novel de novo frameshift variation in the <i>SON</i> gene causing severe global developmental delay and seizures in a Chinese female-Reference-Cited by-同舟云学术

A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female

Published:2022-02-03 Issue:3 Volume:82 Page:271-276
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Intl J of Devlp Neuroscience

Author:

Yi Zhi¹,Song Zhenfeng¹^ORCID,Li Fei¹,Yang Chengqing¹,Xue Jiao¹,Li Lei¹,Zhang Mengxue¹,Zhang Ying¹^ORCID

Affiliation:

1. Department of Pediatrics The Affiliated Hospital of Qingdao University Qingdao China

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10170

Reference12 articles.

1. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

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

3. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

4. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON

5. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for;Richards S.;Molecular Pathology,2015

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1. A heterozygous variant of SON gene in child with ZTTKS;2024-04-19

2. 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

3. Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants;Clinical Case Reports;2022-12

4. Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report;Children;2022-06-11