Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
By M. Oud, P. Tuijnenburg, M. Hempel, N. V. Vlies, Z. Ren, S. Ferdinandusse, Machiel H. Jansen, R. Santer, J. Johannsen, C. Bacchelli and 29 more. 2017
59 citations recorded by the source corpus.
Subfields: Immunology, Molecular Biology
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In Molecular Biology
Citations in the corpus
- 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 (2022, methodology): “However, the remaining gamut of immunodeficiency, neurological features, liver cysts, and spinal cord compression is relatively more variable, suggesting role of genetic and/or environmental modifiers [4, 6].”
- Specific functions of Exostosin-like 3 (EXTL3) gene products (2020, background): “Tyr670Asp), resulted in a neuro-immuno-skeletal dysplasia syndrome [29].”