A novel homozygous mc2r variant leading to type-1 familial glucocorticoid deficiency

HIGHLIGHTS

• who: Idris Mohammed and colleagues from the DivisionKhalifa University have published the Article: A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency, in the Journal: (JOURNAL)
• what: This study provides additional evidence that this novel pathogenic variant in MC2R results in FGD phenotypes. The authors report a novel homozygous loss-of-function MC2R mutation in 2 siblings with hypoglycemia, recurrent infections, and low serum cortisol level.

SUMMARY

Whole exome sequencing (WES) and in_vitro functional studies on cell line transfected with wild-type and mutant plasmid clones were undertaken . . .

 



If you want to have access to all the content you need to log in!

Thanks :)

Username or Email

Password

Remember me

Lost your password?

If you don't have an account, you can create one here.