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An aggressive and expanded phenotype in a kindred with a c.57delG SDHD mutation
Familial paraganglioma syndrome type 1 (PGL-1) is maternally imprinted, caused by SDHD mutations on the paternally inherited allele, and presents with paragangliomas and pheochromocytomas that are usually benign. We describe a kindred with a germline c.57delG SDHD mutation that demonstrates an aggre...
Autores principales: | Caetano, Celina, Stroop, Jennifer, Forouhar, Faripour, Orsey, Andrea, Malchoff, Carl |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983512/ http://dx.doi.org/10.1530/EDM-20-0134 |
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