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Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia
Diamond–Blackfan Anemia (DBA) is a rare polygenic disorder defined by congenital hypoplastic anemia with marked decrease or absence of bone marrow erythroid precursors. Identifying the specific genetic etiology is important for counseling and clinical management. A 6-yr-old boy with a clinical diagn...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Cold Spring Harb Mol Case Stud |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6318771/ https://ncbi.nlm.nih.gov/pubmed/30559313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003384 |
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