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.

Detalles Bibliográficos
Autores principales: Mansour, Tamer, Wei, Sainan, Netzloff, Michael, Mohamed, Tarek, Schutte, Brian, Omar, Said A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603863/
https://www.ncbi.nlm.nih.gov/pubmed/26495166
http://dx.doi.org/10.1055/s-0035-1549299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603863/
https://www.ncbi.nlm.nih.gov/pubmed/26495166
http://dx.doi.org/10.1055/s-0035-1549299

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