Identification of a novel de novo pathogenic variant in gfap in an iranian family with alexander disease by whole-exome sequencing

HIGHLIGHTS

• who: Katayoun Heshmatzad from the A, year-old female patient referred to Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran, suffering from developmental delay and vomiting during one year after her birthShe was born through cesarean delivery and she was the only child of one healthy non-consanguineous parents (Fig. A). Her birth weight and head circumference were , g and have published the article: Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing, in the Journal: (JOURNAL . . .
  

   

  

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