Anna F. Benedetti
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 16 publications
Hydropathic AF-2 variants in the androgen receptor gene among androgen insensitivity patients.
Journal: Andrology
Published: December 14, 2023
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Journal: Endocrine connections
Published: May 01, 2023
Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.
Journal: Clinics (Sao Paulo, Brazil)
Published: September 19, 2022
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Journal: Archives of endocrinology and metabolism
Published: January 14, 2022
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 02, 2021
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 15, 2021
The phenotypic spectrum associated with OTX2 mutations in humans.
Journal: European journal of endocrinology
Published: December 19, 2020
Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.
Journal: Clinical endocrinology
Published: December 13, 2020
Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 02, 2020
Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.
Journal: Endocrine-related cancer
Published: October 02, 2020
Last Updated: 09/26/2026