Aún no tenemos significados para "incompletely penetrant".
1Many mutations are incompletely penetrant and attributing pathogenicity is challenging.
2One of the major difficulties is genetic heterogeneity, possibly due to multiple, incompletely penetrant PC-susceptibility genes.
3The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients.
4Conclusion: This analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome.
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