IndraLab

Statements


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"Our study strengthens the hypothesis that proper KCNQ1 transcription is required for the establishment of IC2 methylation, but that KCNQ1 variants cause IC2 LOM only in a small number of BWS patients."

reach
"The majority of BWS cases occur sporadically, but in case of IC2 LOM caused by a germline variant in KCNQ1, the probability of transmission and the risk of offspring suffering from BWS and LQTS are increased [XREF_BIBR]."