Au-Kline Syndrome (AUKS)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_664-1
Reference8 articles.
1. Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Kline AD (2015) GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36(10):1009–1014. https://doi.org/10.1002/humu.22837
2. Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Innes AM (2018) Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet 26(9):1272–1281. https://doi.org/10.1038/s41431-018-0187-2
3. Au P, Innes M, Kline A, Ardinger HH, Pagon RA, Wallace SE (2019) Au-Kline Syndrome. University of Washington, Seattle
4. Cao W, Razanau A, Feng D, Lobo VG, Xie J (2012) Control of alternative splicing by forskolin through hnRNP K during neuronal differentiation. Nucleic Acids Res 40(16):8059–8071. https://doi.org/10.1093/nar/gks504
5. Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Weksberg R (2022) An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. Am J Hum Genet 109(10):1867–1884. https://doi.org/10.1016/j.ajhg.2022.08.014
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