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...

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Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: Claassen, David, Boals, Michelle, Bowling, Kevin M., Cooper, Gregory M., Cox, Jennifer, Hershfield, Michael, Lewis, Sara, Wlodarski, Marcin, Weiss, Mitchell J., Estepp, Jeremie H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2018
Témata:
Rapid Communication
On-line přístup: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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