Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
Abstract Background Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. Case presentation Whole-ex...
Furkejuvvon:
Váldodahkkit: | , , , , , |
---|---|
Materiálatiipa: | Girji |
Almmustuhtton: |
BMC,
2020-07-01T00:00:00Z.
|
Fáttát: | |
Liŋkkat: | Connect to this object online. |
Fáddágilkorat: |
Lasit fáddágilkoriid
Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!
|
Interneahtta
Connect to this object online.3rd Floor Main Library
Hildobáiki: |
A1234.567 |
---|---|
Njađus 1 | Oažžumis |