Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)
ObjectiveTo identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.DesignImprinting is an epigenetic mechanism that allows the regulation of gene expression. The GNAS locus is one of the loci within the genome that is imprinted. When the met...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2024-12-01
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| Serie: | Frontiers in Endocrinology |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1505244/full |
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