Case report novel epg5 mutation associated with vici syndrome gene

HIGHLIGHTS

• who: Frouzandeh Mahjoubi and colleagues from the Department of Clinical Genetic, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran The Islamic Azad University, Shahr-e-Qods Branch, Tehran, Iran have published the Article: Case Report Novel EPG5 Mutation Associated with Vici Syndrome Gene, in the Journal: Case Reports in Genetics of 23/Nov/2021
• what: The authors report a novel homozygous, nonsynonymous mutation c.A3206G (p.Y1069C Het) in EPG5 gene.

SUMMARY

Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, and hypopigmentation and absent corpus callosum . . .

 



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.