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
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author Mansour, Tamer
Wei, Sainan
Netzloff, Michael
Mohamed, Tarek
Schutte, Brian
Omar, Said A.
author_facet Mansour, Tamer
Wei, Sainan
Netzloff, Michael
Mohamed, Tarek
Schutte, Brian
Omar, Said A.
author_sort Mansour, Tamer
collection PubMed
description 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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spelling pubmed-46038632015-10-22 Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1 Mansour, Tamer Wei, Sainan Netzloff, Michael Mohamed, Tarek Schutte, Brian Omar, Said A. AJP Rep Article 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 2015-05-15 2015-10 /pmc/articles/PMC4603863/ /pubmed/26495166 http://dx.doi.org/10.1055/s-0035-1549299 Text en © Thieme Medical Publishers
spellingShingle Article
Mansour, Tamer
Wei, Sainan
Netzloff, Michael
Mohamed, Tarek
Schutte, Brian
Omar, Said A.
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title_full Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title_fullStr Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title_full_unstemmed Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title_short Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
title_sort frontofacionasal dysplasia in a newborn with a de novo duplication of 7p15.2-p15.1
topic Article
url 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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