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Article

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.

Journal of molecular neuroscience : MN - 1 Dec 2020

Quan Yingting, Zhang Qiumeng, Chen Meilin, Wu Huidan, Ou Jianjun, Shen Yidong, Li Kuokuo, Xun Guanglei, Zhao Jingping, Hu Zhengmao, Xia Kun, Guo Hui

Abstract excerpt

TBL1XR1 is a member of the WD40 repeat-containing gene family. Mutations of TBL1XR1 have been reported in neurodevelopmental disorders (NDDs). Although the phenotypes of some patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with TBL1XR1 mutations. Herein, we report a new de novo frameshift mutation in...

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PMID: 32524419
DOI: 10.1007/s12031-020-01615-7

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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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