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Article

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.

Molecular genetics & genomic medicine - 1 Apr 2023

Yu Yonglin, Jia Xiaoyi, Yin Hongwei, Jiang Hongfang, Du Yu, Yang Fan, Yang Zuozhen, Li Haifeng

Abstract excerpt

BACKGROUND: B-Cell CLL/Lymphoma 11B (BCL11B) is a C2 H2 zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of BCL11B have been found in patients with neurodevelopmental disorders and immunodeficiency. MATERIALS AND METHODS: Whole-exome sequencing (WES) and clinical...

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Identifiers

PMID: 36683525
DOI: 10.1002/mgg3.2132
PMCID: PMC10094078

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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