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1. 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

Author

Luigi D. Notarangelo

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, Biology, N-Acetylglucosaminyltransferases, Osteochondrodysplasias, 03 medical and health sciences, Molecular genetics, Genetics, medicine, Humans, Genetics (clinical), Immunodeficiency, Spondylo epi metaphyseal dysplasia, Cytogenetics, Immunologic Deficiency Syndromes, medicine.disease, Prognosis, 030104 developmental biology, Phenotype, Developmental genetics, Statistical genetics, Dysplasia, Mutation, Commentary, Medical genetics
Abstract

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

Published
2017

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