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Product

Two boys with fragile x syndrome and hepatic tumors

Center:

CA-UC Davis at the MIND Institute, UCEDD/LEND

Fiscal Year:

2008

Contact Information:

Product Description:

Hepatic tumors are rare childhood neoplasms with uncertain etiology. We report the cooccurrence of hepatic tumors in 2 boys with fragile X syndrome, one with hepatoblastoma and another with desmoplastic nested spindle cell tumor of liver. The pathogenesis of fragile X syndrome involves silencing of the fragile X mental retardation 1 gene and consequent loss of FMR1 protein. We speculate regarding molecular pathways that might explain the cooccurrence of the 2 conditions. Further examination of a possible functional link between hepatic neoplasia and loss of FMRP is warranted.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

COVID-19 Related Data:

N/A

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