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Article

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

Molecular genetics & genomic medicine - 1 Aug 2020

Dillon Bronwyn, Feben Candice, Segal David, du Plessis Johannes, Reynders David, Wainwright Rosalind, Poole Janet, Krause Amanda

Abstract excerpt

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. International discourse has highlighted that these abnormalities are widespread among children and adults with FA. To date there...

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Identifiers

PMID: 32529760
DOI: 10.1002/mgg3.1351
PMCID: PMC7434606

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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