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A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report.

Yafeng WangLinlin LiuDandan LiuWei Liu
Published in: BMC pediatrics (2023)
The diagnosis of HS is not clinically difficult, and once a patient with HS is diagnosed, regular follow-up management and standardized treatment are required. Genetic testing is also needed to screen for other genetic disorders that may co-exist in patients with HS who do not have a good efficacy or who have a long-term chronic onset of jaundice.
Keyphrases
  • case report
  • genome wide
  • high throughput
  • dna methylation
  • copy number