Mosaic de novo <i>SNRPN</i> gene variant associated with Prader-Willi syndrome.
| Author | |
|---|---|
| Abstract |
:
Prader-Willi syndrome (PWS) is an imprinting disorder caused by the absence of paternal expressed genes in the Prader-Willi critical region (PWCR) on chromosome 15q11.2-q13. Three molecular mechanisms have been known to cause PWS, including a deletion in the PWCR, uniparental disomy 15 and imprinting defects. |
| Year of Publication |
:
2021
|
| Journal |
:
Journal of medical genetics
|
| Date Published |
:
2021
|
| ISSN Number |
:
0022-2593
|
| URL |
:
https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=34099539
|
| DOI |
:
10.1136/jmedgenet-2020-107674
|
| Short Title |
:
J Med Genet
|
| Download citation |
