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CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. Eggermann T, et al. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Trends Mol Med. 2014. PMID: 25262539 Review.
Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C gene (11p15.5) are associated with the overgrowth disorder Beckwith-Wiedemann syndrome (BWS). With …
Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular proliferation and it has been shown that loss-of-function …
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
Leszinski GS, Warncke K, Hoefele J, Wagner M. Leszinski GS, et al. Gene. 2018 Jul 15;663:110-114. doi: 10.1016/j.gene.2018.04.027. Epub 2018 Apr 12. Gene. 2018. PMID: 29655892 Review.
Patients with Silver-Russell syndrome (SRS), a syndromic growth retardation syndrome, usually harbor an epimutation at chromosome 11p15 or a maternal uniparental disomy of chromosome 7. ...Reviewing the literature, we found additional four patients wit …
Patients with Silver-Russell syndrome (SRS), a syndromic growth retardation syndrome, usually harbor an epimutat …