Article
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.
Journal of human genetics - 1 Aug 2017
Notarangelo Luigi D
Abstract excerpt
No abstract is available from the source.
Topics
- Humans
- Immunologic Deficiency Syndromes
- Mutation
- N-Acetylglucosaminyltransferases
- Osteochondrodysplasias
- Phenotype
- Prognosis