Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
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Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.
Am J Hum Genet. 2017.
PMID: 28132690
Free PMC article.