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ALLMedicine™ Alpha-thalassemia X-linked Intellectual Disability Syndrome Center

Research & Reviews  3 results

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case ...
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...

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome s...
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...

Alpha-thalassemia x-linked intellectual disability syndrome
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...

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