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...

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Detalles Bibliográficos
Autores principales: Bayanbold, Khaliunaa, Younger, Georgianne, Darbro, Benjamin, Sidhu, Alpa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
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

Internet

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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