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Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders

13 Sept 2022

Abstract excerpt

Objective According to a recent report, the mutation of transcription factor gene BCL11B is associated with the development of neurodevelopmental disorders and immune deficiency. By analyzing both clinical features and genetic variations, this study aims to reveal the genetic etiology of four patients with neurodevelopmental disorders from two unrelated Chinese pedigrees. Methods From the 4 cases, the clinical...

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PMID: 36176959
DOI: 10.3389/fnmol.2022.927357

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