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Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma
SUMMARY: Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, TM...
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| 發表在: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Bioscientifica Ltd
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5404711/ https://ncbi.nlm.nih.gov/pubmed/28458909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0014 |
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