Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

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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Bibliographic Details
Main Authors:	Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu
Format:	Article
Language:	English
Published:	Hindawi Limited 2023-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2023/1692422

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