Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,xx patients

HIGHLIGHTS

• who: Duoduo Zhang from the Center, Japan have published the Article: Clinical characteristics and molecular etiology of partial 17u03b1-hydroxylase deficiency diagnosed in 46,XX patients, in the Journal: (JOURNAL)
• what: Almost all patients of reproductive age in this study had primary infertility.
• how: Predicted pathogenicity data were obtained using SNPEff Ensembl Variant Effect Predictor Sorting Intolerant from Tolerant Polymorphism Phenotyping version 2 and dbscSNV databases.

SUMMARY

Frontiersin.org 10.3389/fendo.2022.978026 Conclusions: 46,XX p17OHD patients were born with highly fragile ovarian reserve due to diverse . . .

 



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.