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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

Detalles Bibliográficos
Autor principal: Notarangelo, Luigi D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
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