| 1 | CDKN1C, IMAS, SRS6
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| IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations
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| Cabrera-Salcedo C, Kumar P, Hwa V, Dauber A.
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| Pediatr Endocrinol Rev. Mar;14(3):289-297. doi: 10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth. 2017
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| 2 | CDKN1C, IMAS
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| Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase .
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| Borges KS, Arboleda VA, Vilain E
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| Cell Div. Mar 28;10:2. doi: 10.1186/s13008-015-0008-8. 2015
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| 3 | BWS, CDKN1C, IMAS
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| Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
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| Milani D, Pezzani L, Tabano S, Miozzo M.
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| Appl Clin Genet. Sep 16;7:169-75. doi: 10.2147/TACG.S35474. eCollection 2014 2014
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| 4 | CDKN1C, IMAS
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| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
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| Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.
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| Nat Genet 44(7):788-92. doi: 10.1038/ng.2275.
2012
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