Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia
Authors:
- Marita BosticardoMBMarita Bosticardo
- Luigi D. NotarangeloLNLuigi D. Notarangelo
- Maleewan KitcharoensakkulMKMaleewan Kitcharoensakkul
- Armen SanosyanASArmen Sanosyan
- Megan A. CooperMCMegan A. Cooper
- Jeffrey J. BednarskiJBJeffrey J. Bednarski
- Catherine GoochCGCatherine Gooch
- Francesca PalaFPFrancesca Pala
- Kayla AminiKAKayla Amini
- 31 August 2024
- journal article
- letter
- Published by Springer Nature in Journal of Clinical Immunology
- Vol. 44 (8) , 1-4
Abstract
No abstract availableKeywords
Funding Information
- Division of Intramural Research (AI001222)
This publication has 5 references indexed in Scilit:
- Experience with cultured thymus tissue in 105 childrenJournal of Allergy and Clinical Immunology, 2022
- Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopeniaBlood Advances, 2020
- EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delayJournal of Experimental Medicine, 2017
- Heparan sulfate and heparin interactions with proteinsJournal of The Royal Society Interface, 2015
- Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomalyBlood, 2010