Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder

Sudnawa, K. K., Garber, A., Cohen, R., Calamia, S., Kanner, C. H., Montes, J., Bain, J. M., Fee, R. J., & Chung, W. K. (2024). Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clinical Genetics, 105(5), 523–532. Portico. https://doi.org/10.1111/cge.14487
Authors:
Khemika K Sudnawa
Alison Garber
Ryan Cohen
Sean Calamia
Cara H Kanner
Jacqueline Montes
Jennifer M Bain
Robert J Fee
Wendy K Chung
Affiliated Authors:
Alison Garber
Ryan Cohen
Sean Calamia
Cara H Kanner
Jacqueline Montes
Jennifer M Bain
Robert J Fee
Columbia Affiliation:
Subjects:
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
Microcephaly (MeSH)
Author Keywords:
ctnnb1
developmental delay
dystonia
familial exudative vitreoretinopathy
intellectual disability
microcephaly
neurodevelopmental disorder
spasticity
truncal hypotonia
elink
Publication Type:
Article
Unique ID:
10.1111/cge.14487
PMID:
38247296
DOI:
10.1111/cge.14487
Journal:
Clinical Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: