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Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome.

Anusak SakwitDuangnate RojanapornPimsiri MekjaruskulWiboon SuriyajakryuththanaWerasak SasanakulNongnuch Sirachainan
Published in: Pediatric blood & cancer (2018)
Keyphrases
  • copy number
  • genome wide
  • early onset
  • case report
  • genome wide identification
  • genome wide analysis