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The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.

Katarzyna Wertheim-TysarowskaOrest SzczygielskiKatarzyna SeligaAndrzej TysarowskiJerzy BalElżbieta MichalakAgnieszka Magdalena RygielEwa Sawicka
Published in: Journal of mother and child (2021)
Our study, the first molecular analysis of large/giant CMN in Polish patients, supports the hypothesis that NRAS mutation in codon 61 are frequent, recurrent mutations in large/giant CMN. Moreover, we show, for the first time, that NRAS mutations in codon 12 (p.Gly12Asp) can be also detected in giant CMN. The exact role of these genetic alterations in CMN formation remains to be elucidated.
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