Associated Papers
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation.
Akiyama M et al.
Brain & Development, 2023
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Nascimento CG et al.
Genes, 2023
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