The sdhd:p.h102r variant is frequent in russian patients with head and neck paragangliomas and associated with loss of 11p15.5 region and hypermethylation of h19-dmr

HIGHLIGHTS

• who: Anastasiya Snezhkina and colleagues from the Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia have published the Article: The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR, in the Journal: (JOURNAL)
• what: The authors extended the number of genetically tested Russian patients and showed the high prevalence of the SDHD:p.H102R missense variant in the cohort.

SUMMARY

The authors recently revealed that, among all PPGL susceptibility genes . . .

 



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.