A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Journal of Human Genetics

Volumn 60, Issue 6, 2015, Pages 287-293

  De Crescenzo, Agostina ^a   Citro, Valentina ^a,b   Freschi, Andrea ^a   Sparago, Angela ^a,c   Palumbo, Orazio ^d   Cubellis, Maria Vittoria ^b   Carella, Massimo ^d   Castelluccio, Pia ^e   Cavaliere, Maria Luigia ^e   Cerrato, Flavia ^a   Riccio, Andrea ^a,c  

^a CNR   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e CARDARELLI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CHROMOSOME 11; CHROMOSOME 11P; CHROMOSOME 12Q; CHROMOSOME 7; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HMGA2 GENE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MICROSATELLITE MARKER; NONHUMAN; PHENOTYPE; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; CASE CONTROL STUDY; FEMALE; GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RNA SPLICING;

HIGH MOBILITY GROUP A2 PROTEIN; RNA SPLICING;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HMGA2 PROTEIN; HUMANS; PEDIGREE; PHENOTYPE; RNA SPLICE SITES; SEQUENCE DELETION; SILVER-RUSSELL SYNDROME;

EID: 84932607498     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.29     Document Type: Article

References (19)

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