Case report : a novel ASXL3 gene variant in a Sudanese boy

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial...

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Detalles Bibliográficos
Autores principales: Wu, Ke, Cong, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655995/
https://www.ncbi.nlm.nih.gov/pubmed/34886823
http://dx.doi.org/10.1186/s12887-021-03038-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655995/
https://www.ncbi.nlm.nih.gov/pubmed/34886823
http://dx.doi.org/10.1186/s12887-021-03038-8

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