ALLMedicine™ Alpha-thalassemia X-linked Intellectual Disability Syndrome Center
Research & Reviews 4 results
https://doi.org/10.1002/ajmg.a.62213
American Journal of Medical Genetics. Part A; Arvio M, Lähdetie J
May 5th, 2021 - We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. T...
https://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/
May 28th, 2020 - Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnor...
https://doi.org/10.1016/j.gene.2015.04.075
Gene Lee JS, Lee S et. al.
May 6th, 2015 - Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome is a genetic syndrome caused by mutation of the ATRX gene associated with chromatin remodeling. Recently, a wide spectrum of brain MRI abnormalities and clinical manifestations has...
https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome
Oct 3rd, 2012 - Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other sym...
