NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.
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