Table 8.

Noonan Syndrome with Multiple Lentigines: Mechanism of Disease Causation

Gene 1MechanismComment/Reference
BRAF Gain of function Sarkozy et al [2009]
MAP2K1 Gain of function Nishi et al [2015]
PTPN11 Mixed loss-of-function & dominant-negative effectsKontaridis et al [2006], Zhu et al [2020]
RAF1 Gain of functionPandit et al [2007], Razzaque et al [2007]
1.

Genes from Table 1 in alphabetic order

From: Noonan Syndrome with Multiple Lentigines

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