Načítá se...
Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia
Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients’ optimal clinical management and family counseling. A nondysmorphic infant reported...
Uloženo v:
| Vydáno v: | Cold Spring Harb Mol Case Stud |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Cold Spring Harbor Laboratory Press
2018
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6169821/ https://ncbi.nlm.nih.gov/pubmed/30275003 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003152 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|