Case series novel mutations in the mkks bbs7 , and alms1 genes in iranian children with clinically suspected bardet – biedl syndrome

HIGHLIGHTS

• who: Case Series and colleagues from the Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran have published the paper: Case Series Novel Mutations in the MKKS BBS7 , and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet - Biedl Syndrome, in the Journal: Case Reports in Ophthalmological Medicine of 21/07/2022
• what: The authors used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of_(BBS). As the pedigrees supported AR inheritance in all cases, the . . .
  

   

  

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