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.
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical Publishers, Inc.
2015-05-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1549299 |
| Summary: | 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. |
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| ISSN: | 2157-6998 2157-7005 |