A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome

Charlotte A. Haaxma, Yanick J. Crow, Maurice A. M. van Steensel, Martin M. Y. Lammens, Gillian I. Rice, Marcel M. Verbeek, Michel A. A. P. Willemsen

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2612-2617
JournalAmerican Journal of Medical Genetics Part A
Volume152A
Issue number10
DOIs
Publication statusPublished - Oct 2010

Keywords

  • Aicardi-Goutieres syndrome
  • TREX1
  • IFN-alpha
  • chilblains
  • basal ganglia calcifications

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