Caricamento...

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Am J Hum Genet
Autori principali: Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065681/
https://ncbi.nlm.nih.gov/pubmed/27693232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.017
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !