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Phenotypes
Original research
Refining nosology by modelling variation among facial phenotypes: the RASopathies

Authors

  • Harold Matthews Department of Human Genetics, KU Leuven, Leuven, Flemish Brabant, Belgium Medical Imaging Research Center, UZ Leuven, Leuven, Flemish Brabant, Belgium Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Michiel Vanneste Department of Human Genetics, KU Leuven, Leuven, Flemish Brabant, Belgium Medical Imaging Research Center, UZ Leuven, Leuven, Flemish Brabant, Belgium PubMed articlesGoogle scholar articles
  • Kaitlin Katsura Program in Craniofacial Biology, Departments of Orofacial Sciences and Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA PubMed articlesGoogle scholar articles
  • David Aponte Department of Cell Biology and Anatomy, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada PubMed articlesGoogle scholar articles
  • Michael Patton Medical Genetics Unit, St George's University of London, London, UK PubMed articlesGoogle scholar articles
  • Peter Hammond Department of Human Genetics, KU Leuven, Leuven, Flemish Brabant, Belgium PubMed articlesGoogle scholar articles
  • Gareth Baynam Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, Western Australia, Australia Faculty of Medicine, Notre Dame University, Fremantle, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Richard Spritz Department of Paediatrics, University of Colorado Denver School of Medicine, Aurora, Colorado, USA PubMed articlesGoogle scholar articles
  • Ophir D Klein Program in Craniofacial Biology, Departments of Orofacial Sciences and Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA PubMed articlesGoogle scholar articles
  • Benedikt Hallgrimsson Department of Cell Biology and Anatomy, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada PubMed articlesGoogle scholar articles
  • Hilde Peeters Department of Human Genetics, KU Leuven, Leuven, Flemish Brabant, Belgium PubMed articlesGoogle scholar articles
  • Peter Claes Department of Human Genetics, KU Leuven, Leuven, Flemish Brabant, Belgium Medical Imaging Research Center, UZ Leuven, Leuven, Flemish Brabant, Belgium Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia Department of Electrical Engineering ESAT/PSI, KU Leuven, Leuven, Flemish Brabant, Belgium PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Peter Claes, Medical Imaging Research Center, UZ Leuven, Leuven, Belgium; peter.claes{at}kuleuven.be
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Citation

Matthews H, Vanneste M, Katsura K, et al
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Journal of Medical Genetics 2023;60:285-293.

Publication history

  • Received December 6, 2021
  • Accepted May 18, 2022
  • First published July 20, 2022.
Online issue publication 
February 23, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.