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Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

Jumana Yousuf Al-AamaHams Saeed Al-ZahraniMusharraf JelaniHesham Salih SabirSaad Abdullah Al-SaeediSaleem Ahmed
Published in: Congenital anomalies (2017)
Keyphrases
  • saudi arabia
  • copy number
  • genome wide
  • case report
  • genome wide identification
  • transcription factor
  • genome wide analysis