α-Thalassemia, mental retardation, and myelodysplastic syndrome.
This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndrome...
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| Format: | Journal article |
| Language: | English |
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Cold Spring Harbor Laboratory Press
2012
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| _version_ | 1797092987242545152 |
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| author | Gibbons, R |
| author_facet | Gibbons, R |
| author_sort | Gibbons, R |
| collection | OXFORD |
| description | This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in which α-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS. |
| first_indexed | 2024-03-07T03:53:52Z |
| format | Journal article |
| id | oxford-uuid:c2304738-2537-4280-8faf-1d23fb5a9dcf |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:53:52Z |
| publishDate | 2012 |
| publisher | Cold Spring Harbor Laboratory Press |
| record_format | dspace |
| spelling | oxford-uuid:c2304738-2537-4280-8faf-1d23fb5a9dcf2022-03-27T06:07:10Zα-Thalassemia, mental retardation, and myelodysplastic syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c2304738-2537-4280-8faf-1d23fb5a9dcfEnglishSymplectic Elements at OxfordCold Spring Harbor Laboratory Press2012Gibbons, RThis article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in which α-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS. |
| spellingShingle | Gibbons, R α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title | α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title_full | α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title_fullStr | α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title_full_unstemmed | α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title_short | α-Thalassemia, mental retardation, and myelodysplastic syndrome. |
| title_sort | α thalassemia mental retardation and myelodysplastic syndrome |
| work_keys_str_mv | AT gibbonsr athalassemiamentalretardationandmyelodysplasticsyndrome |