Case report homozygous autosomal recessive diaph1 mutation associated with central nervous system involvement and aspergillosis: a rare case

HIGHLIGHTS

• who: Homozygous Autosomal Recessive DIAPH and collaborators from the Allergy Research Center, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran have published the paper: Case Report Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case, in the Journal: Case Reports in Genetics 3 of 29/09/2022
• what: The authors shed further light on this matter by reporting the clinical genetic and phenotypic characteristics of an Iranian boy with long history of recurrent infections diagnosed with SCBMS and immunodeficiency (NM_005219.5 c.3145C . . .
  

   

  

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