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Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation

BACKGROUND: Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. Internationa...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Dillon, Bronwyn, Feben, Candice, Segal, David, du Plessis, Johannes, Reynders, David, Wainwright, Rosalind, Poole, Janet, Krause, Amanda
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434606/
https://ncbi.nlm.nih.gov/pubmed/32529760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1351
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