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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. Based on a patient with a full deletion of IGSF1 clinically followed from neonate to adulthood, we investigated a common pituitary orig...
Enregistré dans:
Publié dans: | Sci Rep |
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Auteurs principaux: | , , , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Langue: | Inglês |
Publié: |
Nature Publishing Group
2017
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Sujets: | |
Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5338029/ https://ncbi.nlm.nih.gov/pubmed/28262687 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42937 |
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