'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations

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Vakkilainen , S , Constantini , A , Taskinen , M , Wartiovaara-Kautto , U & Mäkitie , O 2019 , ' 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations ' , Journal of Medical Genetics , vol. 57 , no. 1 , pp. 18-22 . https://doi.org/10.1136/jmedgenet-2019-106131

Title: 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations
Author: Vakkilainen, Svetlana; Constantini, Alice; Taskinen, Mervi; Wartiovaara-Kautto, Ulla; Mäkitie, Outi
Contributor: University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
University of Helsinki, Research Programs Unit
University of Helsinki, HUS Children and Adolescents
Date: 2019
Language: eng
Number of pages: 5
Belongs to series: Journal of Medical Genetics
ISSN: 0022-2593
URI: http://hdl.handle.net/10138/309538
Subject: 3111 Biomedicine
CARTILAGE-HAIR HYPOPLASIA
ANAUXETIC DYSPLASIA
RMRP
RNA
MUTATIONS
PHENOTYPE
CONFIRMS
GROWTH
COHORT
1184 Genetics, developmental biology, physiology
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