Associated Papers
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
Tian X et al.
Molecular Genetics & Genomic Medicine, 2024
EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.
Demir E et al.
Pediatric Allergy, Immunology, and Pulmonology, 2023
The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.
Wilson LFL et al.
Nature Communications, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.
Bajaj S et al.
Bmc Pediatrics, 2022
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2021
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
Specific functions of Exostosin-like 3 (EXTL3) gene products.
Yamada S
Cellular & Molecular Biology Letters, 2020
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM et al.
American Journal of Human Genetics, 2017
Select a paper to view details