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

Research & Reviews  3 results

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/

May 27th, 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...

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 5th, 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 2nd, 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...

see more →

Clinicaltrials.gov  3 results

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/

May 27th, 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...

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 5th, 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 2nd, 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...

see more →