Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation ‐positive patients

ConclusionsCutaneous phenotype of NS with aPTPN11 mutation is generally mild and non ‐specific, whereas the absence of aPTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.This article is protected by copyright. All rights reserved.

Source: British Journal of Dermatology - November 12, 2018 Category: Dermatology Authors: D. Bessis, J. Miquel, E. Bourrat, C. Chiaverini, F. Morice ‐Picard, C. Abadie, F. Manna, C. Baumann, M. Best, P. Blanchet, A.‐C. Bursztejn, Y. Capri, C. Coubes, F. Giuliano, S. Guillaumont, S. Hadj‐Rabia, M.‐L. Jacquemont, C. Jean Tags: Original Article Source Type: research