EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
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Volpi S, et al. Among authors: luche n.
J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.
J Exp Med. 2017.
PMID: 28148688
Free PMC article.