...TSC1, and rare pathogenic germline CNVs were found in 18 patients, including CNVs in FH, SDHA, and VHL. This systematic ...
...TSC1, PHOX2B, WT1, SPRED1, NF1, LZTR1, HOXB13) were identified in several patients with syndromic phenotypes. Four crypt...
...TSC1</i> (13.4%), with 11.1 6.1 (mean SEM) mutations/individual. Mutations in <i>KMT2D</i> (p = 0.0127...
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