Article
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Clinical genetics - 1 Jun 2025
Trujillano Laura, Valenzuela Irene, Costa-Roger Mar, Cuscó Ivon, Fernandez-Alvarez Paula, Cueto-González Anna, Lasa-Aranzasti Amaia, Masotto Bárbara, Abulí Anna, Codina-Solà Marta, Del Campo Miguel, Ruiz Moreno Juan Antonio, Pardo Domínguez Cristina, Palma Milla Carmen, Pérez de la Fuente Rubén, Quesada-Espinosa Juan Francisco, Núñez-Enamorado Noemí, Gener Blanca, Ballesta-Martínez María Juliana, Brea-Fernández Alejandro J, Fernández-Prieto Montse, Trujillo-Quintero Juan Pablo, Ruiz Anna, Santos-Simarro Fernando, Rosello Mónica, Orellana Carmen, Martinez Francisco, Martinez-Monseny Antonio F, Casas-Alba Dídac, Serrano Mercedes, Palomares-Bralo María, Rikeros-Orozco Emi, Gómez-Cano María Ángeles, Tirado-Requero Pilar, Pié Juste Juan, Ramos Feliciano J, García-Arumí Elena, Tizzano Eduardo F
Abstract excerpt
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and...
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