- Article
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles
- Cecilia Mancini,
- Luigi Chiriatti,
- Alessandro Bruselles,
- Paola D’ambrosio,
- Andrea Ciolfi,
- Marco Ferilli,
- Camilla Cappelletti,
- Mattia Carvetta,
- Francesca Clementina Radio and
- Marco Tartaglia
- + 8 authors
Background: Dominantly acting variants in TUBB2B have primarily been associated with cortical dysplasia complex with other brain malformations 7 (CDCBM7), a disorder in which cortical brain abnormalities are typically linked to developmental delay/in...