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- CTNNB1 syndrome – CTNNB1 Foundation
What Is CTNNB1 Syndrome? CTNNB1 Syndrome is a severe neurodevelopmental disorder caused by disruption of chromosome 3p22 1 of the CTNNB1 gene (Verhoeven et al 2020) It is a recently discovered condition associated with developmental delay, intellectual disability and speech delay
- CTNNB1 Syndrome - Symptoms, Causes, Treatment | NORD
CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1 gene Neurodevelopmental disorders are ones that impair or alter the growth and development of the brain and the central nervous system
- CTNNB1 Gene - GeneCards | CTNB1 Protein | CTNB1 Antibody
CTNNB1 (Catenin Beta 1) is a Protein Coding gene Diseases associated with CTNNB1 include Pilomatrixomaand Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
- CTNNB1 gene: MedlinePlus Genetics
The CTNNB1 gene provides instructions for making a protein called beta-catenin Learn about this gene and related health conditions
- CTNNB1 Connect Cure – Finding treatment options and a cure for CTNNB1 . . .
CTNNB1 Syndrome is a rare genetic disorder related to the CTNNB1 gene By funding CTNNB1 research, we are creating a roadmap for a cure Get connected with other children and parents in the CTNNB1 community Learn how to get involved to support research and spread awareness
- CTNNB1 Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf
CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR)
- Researchers identify possible treatment for rare disorder CTNNB1 . . .
First identified in 2012, CTNNB1 syndrome affects an estimated 1 in 50,000 people worldwide It is not inherited from parents, but instead is caused in utero or after birth by a sporadic mutation in a single gene
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