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Article

BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.

European journal of medical genetics - 1 Sept 2020

Prasad M, Balci T B, Prasad C, Andrews J D, Lee R, Jurkiewicz M T, Napier M P, Colaiacovo S, Guillen Sacoto M J, Karp N

Abstract excerpt

The product of the BCL11B (B-Cell Leukemia 11) gene is a bi-functional transcriptional regulator that can act as either a repressor or an activator. It plays an important role in the development of the nervous, immune, and cutaneous systems, and is also involved in dental and craniofacial development. BCL11B-Related Disorder (BCL11BRD) is a novel rare neurodevelopmental disorder associated with mutations in...

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Identifiers

PMID: 32659295
DOI: 10.1016/j.ejmg.2020.104007

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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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