Amanda Tirimacco

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We describe a young patient with typical neurofibromatosis type 1 on the basis of a mutation in the NF1 gene, who was diagnosed with a unilateral vestibular schwannoma caused by a somatic mutation in the NF2 gene. This combination has not been described before. This report highlights the requirement for ongoing surveillance regarding other manifestations of(More)
Aim and methods a retrospective review of germline genetic testing (VHL, RET and succinate dehydrogenase subunit genes SDHB, SDHC and SDHD) and immunohistochemical staining for SDHB in tumour tissue (SDHB-IHC), in patients referred to the South Australian Familial Cancer Unit with an adrenal phaeochromocytoma (PC) and/or para-ganglioma (PGL). referred to(More)
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