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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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2017
Assuntos:
Research Articles
Acesso em linha: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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