Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability
The clinical findings are compatible with the diagnosis of BRWS type 1. Our case includes oligodontia as a new feature of the BRWS type 1 phenotype. Functional study of the variant here described could contribute to elucidate the pathogenetic pathway that results in the severe craniofacial phenotype associated with mild developmental delay.
Authors
- Nataliya Di Donato (ORCID: https://orcid.org/0000-0001-9439-4677)
- Marina Bigeli Rafacho
- Ana Laura Galvanin
- Nancy Mizue Kokitsu‐Nakata (ORCID: https://orcid.org/0000-0003-0252-5452)
- Henrique Regonaschi Serigatto (ORCID: https://orcid.org/0000-0003-4355-6677)
- Roseli Maria Zechi‐Ceide (ORCID: https://orcid.org/0000-0002-4526-3336)
- Maria Leine Guion‐Almeida
Institutions
- Hospital São Paulo (BR)
- Technische Universität Dresden (DE)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1159/000542536
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00