De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
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BioMed Central
2015
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544/ |
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pubmed-45375442015-08-16 De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes Palumbo, Orazio Fischetto, Rita Palumbo, Pietro Nicastro, Francesco Papadia, Francesco Zelante, Leopoldo Carella, Massimo Case Report BioMed Central 2015-08-16 /pmc/articles/PMC4537544/ /pubmed/26279679 http://dx.doi.org/10.1186/s13039-015-0170-3 Text en © Palumbo et al. 2015 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
repository_type |
Open Access Journal |
institution_category |
Foreign Institution |
institution |
US National Center for Biotechnology Information |
building |
NCBI PubMed |
collection |
Online Access |
language |
English |
format |
Online |
author |
Palumbo, Orazio Fischetto, Rita Palumbo, Pietro Nicastro, Francesco Papadia, Francesco Zelante, Leopoldo Carella, Massimo |
spellingShingle |
Palumbo, Orazio Fischetto, Rita Palumbo, Pietro Nicastro, Francesco Papadia, Francesco Zelante, Leopoldo Carella, Massimo De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
author_facet |
Palumbo, Orazio Fischetto, Rita Palumbo, Pietro Nicastro, Francesco Papadia, Francesco Zelante, Leopoldo Carella, Massimo |
author_sort |
Palumbo, Orazio |
title |
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
title_short |
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
title_full |
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
title_fullStr |
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
title_full_unstemmed |
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes |
title_sort |
de novo microduplication of chl1 in a patient with non-syndromic developmental phenotypes |
description |
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publisher |
BioMed Central |
publishDate |
2015 |
url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544/ |
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1613260065125433344 |