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Genotype-phenotype correlations
Original research
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Authors

  • Alicia B Byrne Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Shuji Mizumoto Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan Research Center for Pathogenesis of Intractable Diseases, Meijo University, Nagoya, Japan Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand PubMed articlesGoogle scholar articles
  • Peer Arts Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Patrick Yap Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Jinghua Feng School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Andreas W Schreiber School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Milena Babic Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Sarah L King-Smith Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia Australian Genomics Health Alliance, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Christopher P Barnett South Australian Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia School of Medicine, The University of Adelaide, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Lynette Moore School of Medicine, The University of Adelaide, Adelaide, South Australia, Australia Department of Surgical Pathology, Women's and Children's Hospital, SA Pathology, North Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Kazuyuki Sugahara Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan PubMed articlesGoogle scholar articles
  • Hatice Mutlu-Albayrak Department of Pediatric Genetics, Cengiz Gökcek Obstetrics and Children's Hospital, Gaziantep, Turkey PubMed articlesGoogle scholar articles
  • Gen Nishimura Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Jan E Liebelt South Australian Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Shuhei Yamada Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan Research Center for Pathogenesis of Intractable Diseases, Meijo University, Nagoya, Japan PubMed articlesGoogle scholar articles
  • Ravi Savarirayan Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Hamish S Scott Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia Australian Genomics Health Alliance, Melbourne, Victoria, Australia School of Medicine, The University of Adelaide, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Hamish S Scott, Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA 5001, Australia; hamish.scott{at}sa.gov.au
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Citation

Byrne AB, Mizumoto S, Arts P, et al
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Journal of Medical Genetics 2020;57:454-460.

Publication history

  • Received November 14, 2019
  • Revised December 9, 2019
  • Accepted December 21, 2019
  • First published January 27, 2020.
Online issue publication 
June 23, 2020

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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. http://creativecommons.org/licenses/by-nc/4.0/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/.