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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.

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Bibliografski detalji
Izdano u:AJP Rep
Glavni autori: Mansour, Tamer, Wei, Sainan, Netzloff, Michael, Mohamed, Tarek, Schutte, Brian, Omar, Said A.
Format: Artigo
Jezik:Inglês
Izdano: Thieme Medical Publishers 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4603863/
https://ncbi.nlm.nih.gov/pubmed/26495166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1549299
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