| Autor: |
Murugan, Sudhakar, Madhubala, Sharma, Sasidaran, Kandasamy, Anjani, Gummadi, Amit, Rawat, Pandiarajan, Vignesh |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
European Journal of Medical Genetics. 65:104498 |
| ISSN: |
1769-7212 |
| DOI: |
10.1016/j.ejmg.2022.104498 |
| Popis: |
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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