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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...

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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

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