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HSPA9 frameshift and loss-of-function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies.

Atsuko WatanabeTohru FujiwaraAtsuhiko OhtaYuki ShimizuRyuhei Tanaka
Published in: Pediatric blood & cancer (2022)
Keyphrases
  • case report
  • intellectual disability
  • chronic kidney disease
  • heat shock protein
  • autism spectrum disorder