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

The Journal of experimental medicine

Volumn 214, Issue 3, 2017, Pages 623-637

  Volpi, Stefano ^a   Yamazaki, Yasuhiro ^b   Brauer, Patrick M ^a   van Rooijen, Ellen ^a   Hayashida, Atsuko ^a   Slavotinek, Anne ^a   Sun Kuehn, Hye ^c   Di Rocco, Maja ^a   Rivolta, Carlo ^c   Bortolomai, Ileana ^a   Du, Likun ^a   Felgentreff, Kerstin ^a   Ott de Bruin, Lisa ^a   Hayashida, Kazutaka ^a   Freedman, George ^a   Marcovecchio, Genni Enza ^a   Capuder, Kelly ^a   Rath, Prisni ^b   Luche, Nicole ^a   Hagedorn, Elliott J ^a   Buoncompagni, Antonella ^a   Royer Bertrand, Beryl ^a,c   Giliani, Silvia ^a   Poliani, Pietro Luigi ^a   Imberti, Luisa ^c   Dobbs, Kerry ^b   Poulain, Fabienne E ^a   Martini, Alberto ^a   Manis, John ^b   Linhardt, Robert J ^a   Bosticardo, Marita ^a   Rosenzweig, Sergio Damian ^c   Lee, Hane ^a   Puck, Jennifer M ^a   Zúñiga Pflücker, Juan Carlos ^a   Zon, Leonard ^a   Park, Pyong Woo ^a   Superti Furga, Andrea ^a   Notarangelo, Luigi D ^a   more..

^a G GASLINI INSTITUTE   (Italy)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EXTL3 PROTEIN, HUMAN; HEPARAN SULFATE; N ACETYLGLUCOSAMINYLTRANSFERASE;

ANIMAL; BONE DISEASES, DEVELOPMENTAL; CYTOLOGY; DEVELOPMENTAL DISABILITIES; FEMALE; GENETICS; HUMAN; IMMUNOLOGIC DEFICIENCY SYNDROMES; INDUCED PLURIPOTENT STEM CELL; INFANT; LYMPHOCYTE; MUTATION; PHYSIOLOGY; PRESCHOOL CHILD; ZEBRA FISH;

ANIMALS; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HEPARITIN SULFATE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INDUCED PLURIPOTENT STEM CELLS; INFANT; LYMPHOCYTES; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; ZEBRAFISH;

EID: 85021351664     PISSN: None     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20161525     Document Type: Article

References (0)