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Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Society of Musculoskeletal and Neuronal Interactions
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114360/ https://www.ncbi.nlm.nih.gov/pubmed/27282461 |
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author | Papamerkouriou, Y.M. Doulgeraki, A. Gyftodimou, Y. Athanasopoulou, H. Tsiridis, E. Anastasopoulos, J. |
author_facet | Papamerkouriou, Y.M. Doulgeraki, A. Gyftodimou, Y. Athanasopoulou, H. Tsiridis, E. Anastasopoulos, J. |
author_sort | Papamerkouriou, Y.M. |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-5114360 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | International Society of Musculoskeletal and Neuronal Interactions |
record_format | MEDLINE/PubMed |
spelling | pubmed-51143602016-11-21 Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges Papamerkouriou, Y.M. Doulgeraki, A. Gyftodimou, Y. Athanasopoulou, H. Tsiridis, E. Anastasopoulos, J. J Musculoskelet Neuronal Interact Clinical Quiz International Society of Musculoskeletal and Neuronal Interactions 2016-06 /pmc/articles/PMC5114360/ /pubmed/27282461 Text en Copyright: © Journal of Musculoskeletal and Neuronal Interactions http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Clinical Quiz Papamerkouriou, Y.M. Doulgeraki, A. Gyftodimou, Y. Athanasopoulou, H. Tsiridis, E. Anastasopoulos, J. Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title | Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title_full | Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title_fullStr | Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title_full_unstemmed | Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title_short | Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges |
title_sort | osteogenesis imperfecta due to a possible new col1a2 mutation; the importance of phenotyping and diagnostic challenges |
topic | Clinical Quiz |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114360/ https://www.ncbi.nlm.nih.gov/pubmed/27282461 |
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