| Autor: |
Walia, Harpreet, Jain, Rohit, Nirwan, Rekha, Bansal, Rajiv K., Gupta, Gajendra N. |
| Předmět: |
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| Zdroj: |
International Journal of Students' Research; 2013, Vol. 3 Issue 2, p45-47, 3p |
| Abstrakt: |
Osteopetrosis is a group of rare genetic diseases, consequent on absent or defective osteoclasts. A large number of genes have been found to be associated with the defect, each of which results in a clinically variable phenotype with regards to age at presentation and severity of disease. This makes the disease a clinical diagnostic challenge. We present one such case which was diagnosed on trephine biopsy performed to understand the cause of the presence of blast cells in peripheral blood of an 8-month-old infant. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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