Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

The additional sex combs like 3 gene is considered to be causative for the rare Bainbridge-Ropers syndrome (BRPS), which is characterized by severe intellectual disability, neonatal hypotonia, nearly absent development of speech and language as well as several facial dysmorphisms. Apart from disrupt...

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Detalles Bibliográficos
Autores principales: Verhoeven, Willem, Egger, Jos, Räkers, Emmy, van Erkelens, Arjen, Pfundt, Rolph, Willemsen, Marjolein H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877499/
https://www.ncbi.nlm.nih.gov/pubmed/29628764
http://dx.doi.org/10.2147/NDT.S153511

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877499/
https://www.ncbi.nlm.nih.gov/pubmed/29628764
http://dx.doi.org/10.2147/NDT.S153511

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