@article{705362b72a4342bd8d8e587e6753a06e,
title = "Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype",
keywords = "immunodeficiency, non-Hodgkin lymphoma, RMRP, short stature, skeletal dysplasia, ANAUXETIC DYSPLASIA SPECTRUM, MOLECULAR-BASIS, MUTATIONS, RNA, VARIABILITY, PHENOTYPE, FEATURES, GROWTH, 3123 Gynaecology and paediatrics, 1184 Genetics, developmental biology, physiology",
author = "P. Klemetti and H. Valta and S. Kostjukovits and M. Taskinen and S. Toiviainen-Salo and O. Makitie",
year = "2017",
month = aug,
doi = "10.1111/cge.12969",
language = "English",
volume = "92",
pages = "204--207",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley",
number = "2",
}