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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Sci Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2017
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| Θέματα: | |
| Διαθέσιμο Online: | 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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