Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. Here, we p...

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Main Authors: Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama
Format: Article
Language:English
Published: Nature Publishing Group 2024-12-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00303-x
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https://doi.org/10.1038/s41439-024-00303-x

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