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A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.
Familial isolated pituitary adenomas (FIPA) constitute 2–3% of pituitary tumours. FIPA is a non-syndromic entity that occurs in two or more family members. AIP is the most commonly mutated gene. We report here a novel germline mutation of the AIP gene in a family with FIPA. We present two patients,...
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| I publikationen: | Hormones (Athens) |
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| Huvudupphovsmän: | , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2016
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6309374/ https://ncbi.nlm.nih.gov/pubmed/27838609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14310/horm.2002.1686 |
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