Lucie Dupuis

Apr 26, 2024 | nature.com | Emily E. Lubin |Annabel K. Sangree |Rajesh Angireddy |Roberto Mendoza-Londono |Lucie Dupuis |Irene Valenzuela | +23 more

AbstractBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].