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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: | Notarangelo, Luigi D |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
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 |
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