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

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 823-830

  Brioude, F ^a,b   Oliver Petit, I ^c   Blaise, A ^b,d   Praz, F ^b,d   Rossignol, S ^a,d   Le Jule, M ^a   Thibaud, N ^a   Faussat, A M ^e   Tauber, M ^c,e   Le Bouc, Y ^b,d   Netchine, I ^a,d  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL DES ENFANTS   (France)

^d INSERM   (France)

^e Université Paul Sabatier   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYCLIN DEPENDENT KINASE INHIBITOR 1C; PROLINE;

ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ALLELE; ARTICLE; BONE DYSPLASIA; CELL CYCLE; EXON; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INTRAUTERINE GROWTH RETARDATION; INTRON; METAPHYSEAL DYSPLASIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY; SILVER RUSSELL SYNDROME; SITE DIRECTED MUTAGENESIS; UROGENITAL TRACT MALFORMATION;

CDKN1C; CLINICAL GENETICS; FETAL GROWTH; IMPRINTING; RUSSELL SILVER SYNDROME;

AMINO ACID SEQUENCE; ANALYSIS OF VARIANCE; BINDING SITES; COMPUTER SIMULATION; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; FETAL GROWTH RETARDATION; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROLIFERATING CELL NUCLEAR ANTIGEN; SEQUENCE ALIGNMENT; SILVER-RUSSELL SYNDROME;

EID: 84890244971     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101691     Document Type: Article

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