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

ABSTRACT: 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.

SUBMITTER: Mansour T 

PROVIDER: S-EPMC4603863 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature