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Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus
Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. These epigenetic changes are caused by maternal delet...
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| Izdano u: | BMJ Case Rep |
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| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4885331/ https://ncbi.nlm.nih.gov/pubmed/27170606 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-214673 |
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