Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Didier BessisJ MiquelE BourratChristine ChiaveriniFanny Morice-PicardC AbadieF MannaC BaumannM BestP BlanchetAnne-Claire BursztejnY CapriC CoubesF GiulianoS GuillaumontSmail Hadj RabiaM-L JacquemontC JeandelD LacombeS MalletJ Mazereeuw-HautierN MolinariV PallureC PernetN PhilipL PinsonP SardaS SigaudyY VialM WillemsD GenevièveA VerloesH CavéPublished in: The British journal of dermatology (2019)
The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.