Expansion of the mutation spectrum and phenotype of usp7-related neurodevelopmental disorder

HIGHLIGHTS

• who: Weiyue Gu and Hongyan Liu from the Centogene GmbH, Germany University of Edinburgh have published the research: Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder, in the Journal: (JOURNAL)
• what: This study describes three novel patients with pathogenic/likely pathogenic missense and truncating variants in the USP7 gene. This work shows the importance of whole-exome sequencing in the precise diagnosis of genetic diseases.

SUMMARY

Improve the understanding of the molecular and clinical USP7associated phenotype. The USP7 gene is located in chromosome 16p13.2, has 31 . . .

 



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

Thanks :)

Username or E-mail:

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