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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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Detalles Bibliográficos
Autores principales: Dillon, Bronwyn, Feben, Candice, Segal, David, du Plessis, Johannes, Reynders, David, Wainwright, Rosalind, Poole, Janet, Krause, Amanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434606/
https://www.ncbi.nlm.nih.gov/pubmed/32529760
http://dx.doi.org/10.1002/mgg3.1351