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Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair

A 49-year-old woman with cutaneous and uterine leiomyomas, flank pain and a family history of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome sought genetic testing. She was found to harbour a fumarate hydratase (FH) genetic mutation and a previously undetected renal tumour. The pat...

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Détails bibliographiques
Publié dans:BMJ Case Rep
Auteurs principaux: Teh, Jiasian, Kinnear, Ned, Douglass-Molloy, Hannah, Hennessey, Derek Barrry
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5278315/
https://ncbi.nlm.nih.gov/pubmed/28122802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-218270
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