Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14341
Abstract: DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes… read more here.
Keywords: revisiting top2b; phenotypes three; three new; top2b related ... See more keywords