Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis

  • Jane A. Mason, Hnin T. Aung, Adayapalam Nandini, Rickie G. Woods, David J. Fairbairn, John A. Rowell, David Young, Rachel D. Susman, Simon A. Brown, Valentine J. Hyland, Jeremy D. Robertson
  • Molecular Genetics & Genomic Medicine, February 2018, Wiley
  • DOI: 10.1002/mgg3.378

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