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

Nature Genetics

Volumn 44, Issue 7, 2012, Pages 788-792

  Arboleda, Valerie A ^a   Lee, Hane ^a   Parnaik, Rahul ^b   Fleming, Alice ^a   Banerjee, Abhik ^a   Ferraz De Souza, Bruno ^b,c   Délot, Emmanuèle C ^a   Rodriguez Fernandez, Imilce A ^a   Braslavsky, Debora ^d   Bergadá, Ignacio ^d   Dell'Angelica, Esteban C ^a   Nelson, Stanley F ^a   Martinez Agosto, Julian A ^a   Achermann, John C ^b   Vilain, Eric ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C;

ADRENAL DISEASE; ADRENAL HYPOPLASIA CONGENITA; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DYSPLASIA; CDKN1C GENE; CELL CYCLE PROGRESSION; CHROMOSOME 11P; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION; GENE LOCUS; GENITAL MALFORMATION; GENOME ANALYSIS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASIA; IMAGE SYNDROME; INTRAUTERINE GROWTH RETARDATION; MALE; MALFORMATION SYNDROME; METAPHYSIS; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; WILD TYPE;

ADRENAL HYPERPLASIA, CONGENITAL; 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; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PROLIFERATING CELL NUCLEAR ANTIGEN; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY;

EID: 84862992962     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2275     Document Type: Article

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