@article{8ea04dfa3b8a454c90bf4b08f3d19993,
title = "Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management",
keywords = "chondrodysplasia, combined immunodeficiency, RMRP, RNASE-MRP, RMRP MUTATIONS, INCREASED RISK, FOLLOW-UP, RIBONUCLEOPROTEIN, MALIGNANCIES, PHENOTYPE, CHILDREN, DISEASE, MANIFESTATIONS, 3121 General medicine, internal medicine and other clinical medicine, 3123 Gynaecology and paediatrics",
author = "Svetlana Vakkilainen and Mervi Taskinen and Outi M{\"a}kitie",
year = "2020",
month = oct,
doi = "10.1111/sji.12913",
language = "English",
volume = "92",
journal = "Scandinavian Journal of Immunology",
issn = "0300-9475",
publisher = "Wiley",
number = "4",
}