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Details on Person EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Class:IdLiteratureReference:9941180
_displayNameEXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
_timestamp2025-03-07 10:07:29
author[Person:9941260] Volpi, Stefano
[Person:9941293] Yamazaki, Yasuhiro
[Person:9634108] Brauer, Patrick M
[Person:9941201] van Rooijen, Ellen
[Person:9941077] Hayashida, Atsuko
[Person:2453870] Slavotinek, Anne
[Person:9941133] Sun Kuehn, Hye
[Person:2730967] Di Rocco, Maja
[Person:9941027] Rivolta, Carlo
[Person:9941017] Bortolomai, Ileana
[Person:9941273] Du, Likun
[Person:9858694] Felgentreff, Kerstin
[Person:9941264] Ott de Bruin, Lisa
[Person:9941318] Hayashida, Kazutaka
[Person:9941096] Freedman, George
[Person:9941207] Marcovecchio, Genni Enza
[Person:9941270] Capuder, Kelly
[Person:9941164] Rath, Prisni
[Person:9941206] Luche, Nicole
[Person:9941358] Hagedorn, Elliott J
[Person:9941186] Buoncompagni, Antonella
[Person:9941131] Royer-Bertrand, Beryl
[Person:5686114] Giliani, Silvia
[Person:2730975] Poliani, Pietro Luigi
[Person:9941355] Imberti, Luisa
[Person:9941024] Dobbs, Kerry
[Person:9941163] Poulain, Fabienne E
[Person:9725752] Martini, Alberto
[Person:8938263] Manis, John
[Person:2011811] Linhardt, RJ
[Person:9941187] Bosticardo, Marita
[Person:9941135] Rosenzweig, Sergio Damian
[Person:508059] Lee, Hane
[Person:5602444] Puck, Jennifer M
[Person:1602122] Zúñiga-Pflücker, JC
[Person:9941088] Zon, Leonard
[Person:9941107] Park, Pyong Woo
[Person:5579085] Superti-Furga, Andrea
[Person:2730991] Notarangelo, Luigi D
created[InstanceEdit:9941068] Stephan, Ralf, 2025-03-07
journalJ Exp Med
pages623-637
pubMedIdentifier28148688
titleEXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
volume214
year2017
(literatureReference)[Reaction:9953259] EXTL3 dimer transfers GlcNAc to the GAG linker [Homo sapiens]
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No pathways have been reviewed or authored by EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay (9941180)