E-viri
Recenzirano
-
Eggermann, Thomas; Binder, Gerhard; Brioude, Frédéric; Maher, Eamonn R; Lapunzina, Pablo; Cubellis, Maria Vittoria; Bergadá, Ignacio; Prawitt, Dirk; Begemann, Matthias
Trends in molecular medicine, 11/2014, Letnik: 20, Številka: 11Journal Article
Highlights • Opposed functional mutations in CDKN1C cause opposite clinical features. • Loss-of-function mutations cause overgrowth. • Gain-of-function mutations in the PCNA domain result in growth restriction. • Only maternally inherited mutations in CDKN1C are associated with disturbed growth.
