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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92.
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PubMed
subject areas
Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Animals
Beckwith-Wiedemann Syndrome
Cell Line, Transformed
Chromosomes, Human, Pair 11
Cyclin-Dependent Kinase Inhibitor p57
Drosophila
Exons
Female
Fetal Growth Retardation
Genetic Diseases, X-Linked
Genetic Loci
Genetic Predisposition to Disease
HEK293 Cells
Humans
Hypoadrenocorticism, Familial
Male
Mutation
Osteochondrodysplasias
Proliferating Cell Nuclear Antigen
Protein Binding
Protein Structure, Tertiary
authors with profiles
Rahul Parnaik