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
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| Journal | :
Journal of medical genetics
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| Date Published | :
2021
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| ISSN Number | :
0022-2593
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| URL | :
https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=34099539
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| DOI | :
10.1136/jmedgenet-2020-107674
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| Short Title | :
J Med Genet
|
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