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

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

Abstract 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. Inte...

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Bibliographic Details
Main Authors: Bronwyn Dillon, Candice Feben, David Segal, Johannes duPlessis, David Reynders, Rosalind Wainwright, Janet Poole, Amanda Krause
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
endocrine abnormalities
FANCG
founder mutation
short stature
thyroid function
Online Access:https://doi.org/10.1002/mgg3.1351

Internet

https://doi.org/10.1002/mgg3.1351

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