Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
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M. Fichera | C. Romano | F. Calì | M. Elia | C. Amato | P. Failla | D. Greco | L. Castiglia | O. Galesi | L. Grillo | Eliana Salvo | Lucia Saccuzzo | M. Miceli