A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • K Koehler - , Department of Paediatrics (Author)
  • MP Milev - (Author)
  • K Prematilake - (Author)
  • Felix Reschke - (Author)
  • Susann Kutzner - (Author)
  • Ramona Jühlen - (Author)
  • Dana Landgraf - (Author)
  • E Utine - (Author)
  • F Hazan - (Author)
  • G Diniz - (Author)
  • Markus Schuelke - (Author)
  • A Huebner - , Department of Paediatrics (Author)
  • M Sacher - (Author)

Details

Original languageEnglish
Pages (from-to)176-185
Number of pages10
JournalJournal of Medical Genetics
Volume54
Publication statusPublished - Oct 2016
Peer-reviewedYes

External IDs

Scopus 85028281548
ORCID /0000-0002-9407-1410/work/90094234
PubMed 27707803

Keywords