CDKN1C mutations: Two sides of the same coin

Trends in Molecular Medicine

Volumn 20, Issue 11, 2014, Pages 614-622

  Eggermann, Thomas ^a   Binder, Gerhard ^b   Brioude, Frédéric ^c   Maher, Eamonn R ^d,e   Lapunzina, Pablo ^f   Cubellis, Maria Vittoria ^g   Bergadá, Ignacio ^h   Prawitt, Dirk ⁱ   Begemann, Matthias ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e NIHR Cambridge Biomedical Research Centre   (United Kingdom)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

ⁱ UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Beckwith wiedemann syndrome; CDKN1C; IMAGE syndrome; Imprinting; Point mutations; Silver russell syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C;

BECKWITH WIEDEMANN SYNDROME; CENTROMERE; CHROMOSOME 11P; CONGENITAL DISORDER; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENOME IMPRINTING; HUMAN; IMAGE SYNDROME; LOSS OF FUNCTION MUTATION; NONHUMAN; REVIEW; SILVER RUSSELL SYNDROME; SYNDROME; TELOMERE; ADRENAL INSUFFICIENCY; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11; CHROMOSOME ABERRATION; DISEASE MANAGEMENT; FETAL GROWTH RETARDATION; GENETICS; MUTATION; OSTEOCHONDRODYSPLASIAS; UROGENITAL ABNORMALITIES;

ADRENAL INSUFFICIENCY; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; CYCLIN-DEPENDENT KINASE INHIBITOR P57; DISEASE MANAGEMENT; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENOMIC IMPRINTING; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; UROGENITAL ABNORMALITIES;

EID: 84909578875     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2014.09.001     Document Type: Review

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