Homozygous mutation in ELMO2 may cause Ramon syndrome

C. Mehawej, A. Hoischen, R. A. Farah, I. Marey, M. David, S. Stora, K. Lachlan, H. G. Brunner, A. Megarbane*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)703-706
Number of pages4
JournalClinical Genetics
Volume93
Issue number3
DOIs
Publication statusPublished - 1 Mar 2018

Keywords

  • dysmorphology
  • gene
  • Ramon syndrome
  • whole exome sequencing
  • INTRAOSSEOUS VASCULAR MALFORMATION
  • 2 SIBS
  • RAC1
  • INTERACTS

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