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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease renal cell carcinoma
Comorbidity C0018552|hamartomas
Sentences 1
PubMedID- 22655275 Specifically, chromophobe rccs can occur with hair follicle hamartomas and pulmonary cysts as part of the autosomal dominant birt–hogg–dubé syndrome, caused by mutations in the bhd gene flcn (nickerson et al., 2002), and kit has been reported to be overexpressed in the sporadic form of this subtype (yamazaki et al., 2003; pan et al., 2004; yusenko et al., 2009).

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