EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblas...

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Bibliografiset tiedot
Julkaisussa:J Exp Med
Päätekijät: Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M., van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J., Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E., Martini, Alberto, Manis, John, Linhardt, Robert J., Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M., Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Rockefeller University Press 2017
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Research Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
https://ncbi.nlm.nih.gov/pubmed/28148688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20161525
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