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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...
Bewaard in:
Gepubliceerd in: | Sci Rep |
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Hoofdauteurs: | , , , , , , , , , , , , , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
Nature Publishing Group
2017
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Onderwerpen: | |
Online toegang: | 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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