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Items: 2

1.

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

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.

J Med Genet. 2013 Dec;50(12):823-30. doi: 10.1136/jmedgenet-2013-101691. Epub 2013 Sep 24.

PMID:
24065356
2.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

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.

Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.

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