Beckwith–Wiedemann and IMAGe syndromes: Two very different diseases caused by mutations on the same gene

Application of Clinical Genetics

Volumn 7, Issue , 2014, Pages 169-175

  Milani, Donatella ^a   Pezzani, Lidia ^a   Tabano, Silvia ^a   Miozzo, Monica ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Beckwith Wiedemann syndrome; CDKN1C; Genomic imprinting; Growth disturbances; IMAGe syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C;

ALLELE; BECKWITH WIEDEMANN SYNDROME; CDKN1C GENE; CLINICAL FEATURE; DISEASE ASSOCIATION; EARLY DIAGNOSIS; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH REGULATION; HUMAN; IMAGE SYNDROME; LOSS OF FUNCTION MUTATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PROTEIN FUNCTION; REVIEW;

EID: 84907519365     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S35474     Document Type: Review

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