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Article

Revisiting TOP2B-related phenotypes: Three new cases and literature review.

Clinical genetics - 1 Aug 2023

Çepni Ece, Börklü Esra, Avcı Şahin, Kalaycı Tuğba, Eraslan Serpil, Kayserili Hülya

Abstract excerpt

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 characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon-macrostomia-like syndrome. We herein report on a mother and two sons with...

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PMID: 37068767
DOI: 10.1111/cge.14341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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