@article{5f4788cc9aae4c968c0154f0bfd3de59,
title = "Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations",
keywords = "3111 Biomedicine, CARTILAGE-HAIR HYPOPLASIA, ANAUXETIC DYSPLASIA, RMRP, RNA, MUTATIONS, PHENOTYPE, CONFIRMS, GROWTH, COHORT, 1184 Genetics, developmental biology, physiology",
author = "Svetlana Vakkilainen and Alice Constantini and Mervi Taskinen and Ulla Wartiovaara-Kautto and Outi M{\"a}kitie",
year = "2020",
doi = "10.1136/jmedgenet-2019-106131",
language = "English",
volume = "57",
pages = "18--22",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group Ltd",
number = "1",
}