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Description of a SDHD c.129G>A (p.W43X) Mutation With Variable Presentation in Multiple Family Members
Approximately 40% of paragangliomas and pheochromocytomas are attributed to hereditary mutations. SDHD mutations account for 7% of inherited mutations (PGL1 syndrome), is maternally imprinted and has variable penetrance. SDHD pathogenic variants (PV) have been previously described extensively in Dut...
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| Publicado no: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8089188/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.2036 |
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