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Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
BACKGROUND: Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations. METHODS: Whole exome sequencing was applied for the genetic diagnosis of a 12‐...
Shranjeno v:
| izdano v: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216794/ https://ncbi.nlm.nih.gov/pubmed/32160409 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1220 |
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