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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...
Autores principales: | Stone, Stephen I, Wegner, Daniel J, Wambach, Jennifer A, Cole, F Sessions, Urano, Fumihiko, Ornitz, David M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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 |
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