Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W. van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-Francois Deleuze, Anne Boland, Vincent MeyerRobert Olaso, Emmanuelle Ginglinger, Jean-Baptiste Riviere, Han G. Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)830-835
Number of pages6
JournalJournal of Medical Genetics
Volume54
Issue number12
DOIs
Publication statusPublished - Dec 2017

Keywords

  • DOMINANT RETINITIS-PIGMENTOSA
  • BAINBRIDGE-ROPERS SYNDROME
  • PROTEIN
  • LIGASE
  • CANCER
  • ONSET

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