TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference40 articles.
1. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine;Lupski;Trends Genet.,2022
2. Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome;Hijazi;Hum. Mutat.,2020
3. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities;Yamamoto;J. Hum. Genet.,2014
4. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies;Labonne;BMC Neurol.,2016
5. Genomic structure and chromosomal localization of TCEAL1, a human gene encoding the nuclear phosphoprotein p21;Pillutla;Genomics,1999
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3. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder;European Journal of Human Genetics;2024-01-10
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