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A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreat...

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Detalles Bibliográficos
Autores principales:	Khan, Tuba Rashid, Dolce, Alison, Goodspeed, Kimberly
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848676/ https://www.ncbi.nlm.nih.gov/pubmed/35172777 http://dx.doi.org/10.1186/s12883-022-02573-w

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