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Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.

Yoav H MessingerTamara C PozosAnne G GriffithsWilliam A MizeDamon R OlsonAngela R Smith
Published in: Pediatric hematology and oncology (2021)
Keyphrases
  • case report
  • pulmonary hypertension
  • copy number
  • gene expression
  • dna methylation