Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1

We report a new case of frontofacionasal dysplasia or dysostosis (FFND) with a 1.5 Mb duplication in the region of 7p15.2-p15.1, and provide a review of the literature to understand the underlying pathogenesis better.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents  |  Abstract  |  open access Full text

Source: American Journal of Perinatology Reports - May 15, 2015 Category: Perinatology & Neonatology Authors: Mansour, TamerWei, SainanNetzloff, MichaelMohamed, TarekSchutte, BrianOmar, Said A. Tags: Case Report Source Type: research