Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐assoc...
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
About this item
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Author / Creator
Rossetti, Linda Z. , Bekheirnia, Mir Reza , Lewis, Andrea M. , Mefford, Heather C. , Golden‐Grant, Katie , Tarczy‐Hornoch, Kristina , Briere, Lauren C. , Sweetser, David A. , Walker, Melissa A. , Kravets, Elijah , Stevenson, David A. , Bruenner, Georgette , Sebastian, Jessica , Knapo, Julia , Rosenfeld, Jill A. , Marcogliese, Paul C. , Wangler, Michael F. and Undiagnosed Diseases Network
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
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Contents
Background
CTNNB1 (MIM 116806) encodes beta‐catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTNNB1 have been associated with human disease, including neurodevelopmental disorder with spastic diplegia and...
Alternative Titles
Full title
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Authors, Artists and Contributors
Author / Creator
Bekheirnia, Mir Reza
Lewis, Andrea M.
Mefford, Heather C.
Golden‐Grant, Katie
Tarczy‐Hornoch, Kristina
Briere, Lauren C.
Sweetser, David A.
Walker, Melissa A.
Kravets, Elijah
Stevenson, David A.
Bruenner, Georgette
Sebastian, Jessica
Knapo, Julia
Rosenfeld, Jill A.
Marcogliese, Paul C.
Wangler, Michael F.
Undiagnosed Diseases Network
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_97a6e568d81743e7acc39d5e37648a66
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_97a6e568d81743e7acc39d5e37648a66
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1542
