Bryant-Li-Bhoj neurodevelopmental syndrome

Definition:

Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) is characterized by global developmental delay, short stature, failure to thrive, dysmorphic facial features, structural brain abnormalities, hypotonia, and visual impairment. De novo germline missense mutations in H3-3A and H3-3B have been reported in patients. Both H3-3A and H3-3B encode H3.3, the histone H3 variant. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment.

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