ALLMedicine™ Alpha-thalassemia X-linked Intellectual Disability Syndrome Center
Research & Reviews 3 results
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...
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...
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...