Article
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
American journal of medical genetics. Part A - 1 Jul 2023
Gazdagh Gabriella, Hunt David, Gonzalez Anna Maria Cueto, Rodriguez Monserrat Pons, Chaudhry Ayeshah, Madruga Marcos, Vansenne Fleur, Shears Deborah, Curie Aurore, Stattin Eva-Lena, Anderlid Britt-Marie, Trajkova Slavica, Angelovska Elena Sukarova, McWilliam Catherine, Wyatt Philip R, O'Driscoll Mary, Atton Giles, Bergman Anke K, Zacher Pia, Mewasingh Leena D, López Antonio Gonzalez-Meneses, Alonso-Luengo Olga, Wai Htoo A, Rohde Ottilie, Boiroux Pauline, Debant Anne, Schmidt Susanne, Baralle Diana
Abstract excerpt
The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on...
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