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. International discourse has highlighted that these abnormalities are widespread among children and adults with FA. To date there has been no systematic study that has evaluated the endocrine abnormalities in a cohort of patients with FA, homozygous for a founder mutation (c.637_643del (p.Tyr213Lysfs*6)) in FANCG. The objectives of the study were to evaluate endocrine gland function in patients with FA of a single FA genotype, and to determine the frequency and nature of endocrine abnormalities in thi

SUBMITTER: Dillon B 

PROVIDER: S-EPMC7434606 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature