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A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.

Takanori OnukiNao ShibataShota HiroshimaKentaro SawanoKeisuke Nagasaki
Published in: Congenital anomalies (2021)
Keyphrases
  • early onset
  • copy number
  • genome wide
  • gene expression
  • dna methylation