Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Medicine, Neurology, Life Sciences, Genetics,
Bryant-Li-Bhoj Syndrome   Phenotypic Spectrum   Neurodevelopmental Disorder   Neurodegenerative Disorder   H3.3  

Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...