eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | thalassemia |
| Comorbidity | C0025362|mental retardation |
| Sentences | 4 |
| PubMedID- 26026117 | We studied telomere length abnormalities, telomerase rna component (terc) expression, alpha-thalassemia x-linked mental retardation (atrx) expression, and death domain-associated protein (daxx) expression in gastroenteropancreatic neuroendocrine tumors (gep-nets). |
| PubMedID- 21505078 | Atrx is a member of the snf2 family of chromatin-remodelling proteins and is mutated in an x-linked mental retardation syndrome associated with alpha-thalassaemia (atr-x syndrome). |
| PubMedID- 25976463 | Alpha-thalassemia x-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the atrx gene. |
| PubMedID- 20507641 | Also patients with a rare form of syndromal x-linked mental retardation associated with α thalassaemia have been described, in which the intellectual disability is more severe and the dysmorphic features show striking similarities among patients. |
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