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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

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

Mansour Tamer T   Wei Sainan S   Netzloff Michael M   Mohamed Tarek T   Schutte Brian B   Omar Said A SA  

AJP reports 20150515 2


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. ...[more]

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