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Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review
Bromodomain and PHD finger containing 1 (BRPF1)-related neurodevelopmental disorder is characterized by intellectual disability, developmental delay, hypotonia, dysmorphic facial features, ptosis, and blepharophimosis. Both de novo and inherited pathogenic variants have been previously reported in a...
Autores principales: | Bayanbold, Khaliunaa, Younger, Georgianne, Darbro, Benjamin, Sidhu, Alpa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632058/ https://www.ncbi.nlm.nih.gov/pubmed/37946714 http://dx.doi.org/10.1155/2023/1692422 |
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