PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
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Stray-Pedersen A, et al. Among authors: martinez ca.
Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.
Am J Hum Genet. 2014.
PMID: 24931394
Free PMC article.