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Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
| Autor principal: | |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537410/ https://www.ncbi.nlm.nih.gov/pubmed/28446799 http://dx.doi.org/10.1038/jhg.2017.47 |
| _version_ | 1783254171142586368 |
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| author | Notarangelo, Luigi D |
| author_facet | Notarangelo, Luigi D |
| author_sort | Notarangelo, Luigi D |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5537410 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-55374102017-08-07 Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia Notarangelo, Luigi D J Hum Genet Commentary Nature Publishing Group 2017-08 2017-04-27 /pmc/articles/PMC5537410/ /pubmed/28446799 http://dx.doi.org/10.1038/jhg.2017.47 Text en Copyright © 2017 The Japan Society of Human Genetics |
| spellingShingle | Commentary Notarangelo, Luigi D Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title_full | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title_fullStr | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title_full_unstemmed | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title_short | Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| title_sort | expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic extl3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia |
| topic | Commentary |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537410/ https://www.ncbi.nlm.nih.gov/pubmed/28446799 http://dx.doi.org/10.1038/jhg.2017.47 |
| work_keys_str_mv | AT notarangeloluigid expandingthespectrumofskeletaldysplasiawithimmunodeficiencyacommentaryonidentificationofbiallelicextl3mutationsinanoveltypeofspondyloepimetaphysealdysplasia |