Article
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
International journal of molecular sciences - 5 Feb 2024
Chiloiro Sabrina, Capoluongo Ettore Domenico, Costanza Flavia, Minucci Angelo, Giampietro Antonella, Infante Amato, Milardi Domenico, Ricciardi Tenore Claudio, De Bonis Maria, Gaudino Simona, Rindi Guido, Olivi Alessandro, De Marinis Laura, Pontecorvi Alfredo, Doglietto Francesco, Bianchi Antonio
Abstract excerpt
Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a RET pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient's father and daughter carried the same variant, we investigated the clinical significance of this variant in...
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