Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

by Corrado Occella, Dario Bleidl, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Giorgio Gimelli, Stefania Gimelli, Elisa Tassano
Published 2013-01-01

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

by Valeria Capra, Samantha Mascelli, Maria Luisa Garrè, Paolo Nozza, Carlotta Vaccari, Lara Bricco, Frédérique Sloan-Béna, Stefania Gimelli, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano
Published 2013-01-01