Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
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
Specific functions of Exostosin-like 3 (EXTL3) gene products.
Yamada S
Cellular & Molecular Biology Letters, 2020
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
Guo L et al.
Journal of Human Genetics, 2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S et al.
The Journal of Experimental Medicine, 2017
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