1 | CDKN1C, SRS6
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| Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
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| Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T.
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| Clin Epigenetics. Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. 2020
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2 | 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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3 | CDKN1C, SRS6
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| CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
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| Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat AM, Tauber M, Le Bouc Y, Netchine I.
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| J Med Genet. Dec;50(12):823-30. doi: 10.1136/jmedgenet-2013-101691. Epub 2013 Sep 24. 2013
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