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Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms

Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the paternal chromosome, whereas KOS most...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Prasasya, Rexxi, Grotheer, Kristen V, Siracusa, Linda D, Bartolomei, Marisa S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8325017/
https://ncbi.nlm.nih.gov/pubmed/32592473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa133
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