Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Tom E. J. Theunissen, Suzanne C. E. H. Sallevelt, Debby M. E. I. Hellebrekers, Bart de Koning, Alexandra T. M. Hendrickx, Bianca J. C. van den Bosch, Rick Kamps, Kees Schoonderwoerd, Radek Szklarczyk, Elvira N. M. Mulder-Den Hartog, Irenaeus F. M. de Coo, Hubert J. M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)371-374
Number of pages4
JournalThe Journal of Pediatrics
Volume182
DOIs
Publication statusPublished - Mar 2017

Keywords

  • HERMANSKY-PUDLAK-SYNDROME
  • SPINAL MUSCULAR-ATROPHY
  • INBORN ERROR
  • MUTATIONS
  • GENE
  • AMINOACYLASE-1
  • DEFICIENCY
  • METABOLISM
  • BICD2

Cite this