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Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families.

Ambreen IjazMusharraf JelaniAnila PanezaiTahmina RabbaniIftikhar A RasoolJamil AhmadAbdul Wali
Published in: Congenital anomalies (2018)
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • genome wide identification
  • gene expression
  • dna methylation
  • genome wide analysis