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Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

Insulin-mediated pseudoacromegaly (IMPA) is a rare disease of unknown etiology. Here we report a 12-year-old female with acanthosis nigricans, hirsutism, and acromegalic features characteristic of IMPA. The subject was noted to have normal growth hormone secretion, with extremely elevated insulin le...

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Detalles Bibliográficos
Autores principales: Stone, Stephen I, Wegner, Daniel J, Wambach, Jennifer A, Cole, F Sessions, Urano, Fumihiko, Ornitz, David M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653638/
https://www.ncbi.nlm.nih.gov/pubmed/33210059
http://dx.doi.org/10.1210/jendso/bvaa138