Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

J Hum Genet

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Published: August 2017

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537410	PMC
http://dx.doi.org/10.1038/jhg.2017.47	DOI Listing

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