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. 2017 Aug;62(8):737-738. doi: 10.1038/jhg.2017.47. Epub 2017 Apr 27.

Author

Luigi D Notarangelo¹

Affiliation

¹ Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

No abstract available

MeSH terms

Humans
Immunologic Deficiency Syndromes / complications
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / pathology
Mutation*
N-Acetylglucosaminyltransferases / genetics*
Osteochondrodysplasias / complications
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / pathology
Phenotype
Prognosis

Substances

EXTL3 protein, human
N-Acetylglucosaminyltransferases