CTNNB1 ‐related neurodevelopmental disorder in a Chinese population: A case series-Reference-Cited by-同舟云学术

CTNNB1 ‐related neurodevelopmental disorder in a Chinese population: A case series

Published:2021-09-24 Issue:1 Volume:188 Page:130-137
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ho Stephanie¹^ORCID,Tsang Mandy Ho‐Yin²,Fung Jasmine Lee‐Fong²,Huang Haibo³,Chow Chun‐Bong³,Cheng Shirley Sze‐Wing¹,Luk Ho‐Ming¹,Chung Brian Hon‐Yin²^ORCID,Lo Ivan Fai‐Man¹

Affiliation:

1. Clinical Genetic Service Department of Health Hong Kong China

2. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong China

3. Department of Pediatrics The University of Hong Kong‐Shenzhen Hospital Shenzhen China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62504

Reference18 articles.

1. Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis

2. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature

3. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

4. Prevalence and architecture of de novo mutations in developmental disorders

5. A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

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1. Clinical Response of Levodopa in CTNNB1-Related Dystonia;Journal of Pediatric Neurology;2024-06-03

2. Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation;International Journal of Biological Macromolecules;2024-02

3. Familial exudative vitreoretinopathy caused by CTNNB1 gene mutation in a Chinese family: A case report;2024-01-29

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