Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature

Bainbridge-Ropers syndrome (BRPS) or additional sex combs-like 3 (ASXL3)-related disorder is a neurodevelopmental disorder caused by a de novo missense mutation in the ASXL3 gene found on chromosome 18. The number of BRPS cases recorded to date is less than 100. In this report, a six-year-old Texan...

Descripción completa

Detalles Bibliográficos
Autores principales: Siu Xiao, Tania, Colombari Arce, Giuliana, Rojas Marron, Andreina, Benitez, Guadalupe A, Schwanecke, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9869920/
https://www.ncbi.nlm.nih.gov/pubmed/36699804
http://dx.doi.org/10.7759/cureus.32902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9869920/
https://www.ncbi.nlm.nih.gov/pubmed/36699804
http://dx.doi.org/10.7759/cureus.32902

Ejemplares similares