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...

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Detalles Bibliográficos
Autores principales: Caetano, Celina, Stroop, Jennifer, Forouhar, Faripour, Orsey, Andrea, Malchoff, Carl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983512/
http://dx.doi.org/10.1530/EDM-20-0134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983512/
http://dx.doi.org/10.1530/EDM-20-0134

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