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Genotype-phenotype correlations
Original article
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations

Authors

  • Svetlana Vakkilainen New Children's Hospital, Pediatric Research Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Alice Costantini Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Mervi Taskinen New Children's Hospital, Pediatric Research Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Ulla Wartiovaara-Kautto Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center and University of Helsinki, Helsinki, Finland Applied Tumor Genomics / Research Programs Unit, University of Helsinki, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Outi Mäkitie New Children's Hospital, Pediatric Research Center and Institute of Genetics, University of Helsinki and HUS Helsinki University Hospital and Folkhälsan Research Center, Helsinki, Finland Department of Molecular Medicine and Surgery and Center for Molecular Medicine and Department of Clinical Genetics, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Svetlana Vakkilainen, New Children's Hospital, Pediatric Research Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00100, Finland; svetlana.vakkilainen{at}hus.fi
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Citation

Vakkilainen S, Costantini A, Taskinen M, et al
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
Journal of Medical Genetics 2020;57:18-22.

Publication history

  • Received March 5, 2019
  • Revised June 14, 2019
  • Accepted June 22, 2019
  • First published August 14, 2019.
Online issue publication 
December 13, 2019

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.