Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
Hum Genome Var. 2024 Dec 4;11(1):45. doi: 10.1038/s41439-024-00303-x. ABSTRACT Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone …