26 results match your criteria: "University of Texas Health Science Center and Children's Memorial Hermann Hospital[Affiliation]"
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
March 2019
Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:
Article Synopsis
- * Researchers identified 17 new variants of the TRRAP gene in 24 patients, linking specific gene mutations to two clinical spectrums: one leads to multi-systemic syndromes with structural malformations and intellectual disabilities, while the other is associated with autism spectrum disorder and epilepsy.
- * Both clinical groups exhibited distinct facial features and showed altered gene expression related to neuronal function in skin fibroblasts, suggesting a strong genotype-phenotype correlation that can aid in clinical evaluations of TRRAP variants