Comparison of the Clinical Phenotype and Haematological Course of Siblings with Fanconi Anemia

Fanconi anemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA – FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants, however, such association has not been reported. We present the detailed phenotyp...

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Detalhes bibliográficos
Publicado no:Br J Haematol
Main Authors: Jung, Moonjung, Mehta, Parinda A, Jiang, Caroline S, Rosti, Rasim O, Usleaman, Gabriel, da Rosa, Joel M Correa, Lach, Francis P, Goodridge, Erica, Auerbach, Arleen D, Davies, Stella M, Smogorzewska, Agata, Boulad, Farid
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7914271/
https://ncbi.nlm.nih.gov/pubmed/32866285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.17061
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