Analysis of germline CDKNIC (p57(KIP2)) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Journal of Medical Genetics

Volumn 36, Issue 7, 1999, Pages 518-523

  Lam, Wayne W K ^a   Hatada, Izuho ^b   Ohishi, Sachiko ^b   Mukai, Tsunehiro ^b   Joyce, Johanna A ^c   Cole, Trevor R P ^a   Donnai, Dian ^d   Reik, Wolf ^e   Schofieid, Paul N ^c   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e BABRAHAM INSTITUTE   (United Kingdom)

Author keywords

Beckwith Wiedemann syndrome; CDKN1C (p57(KIP2) mutation

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENOME IMPRINTING; GENOTYPE; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; NEPHROBLASTOMA; PHENOTYPE; PRIORITY JOURNAL; UMBILICAL HERNIA; UNIPARENTAL DISOMY; DNA SEQUENCE; GENETICS; MUTATION;

CDKN1C PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; NUCLEAR PROTEIN;

BECKWITH-WIEDEMANN SYNDROME; CYCLIN-DEPENDENT KINASE INHIBITOR P57; GENOMIC IMPRINTING; GENOTYPE; GERM-LINE MUTATION; HUMANS; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 0032589195     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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