Submicroscopic genomic alterations in Silver - Russell syndrome and Silver - Russell-like patients

Journal of Medical Genetics

Volumn 47, Issue 12, 2010, Pages 816-822

  Bruce, Sara ^a,b   Hannula Jouppi, Katariina ^b   Puoskari, Mari ^a,b   Fransson, Ingegerd ^a   Simola, Kalle O J ^c   Lipsanen Nyman, Marita ^b   Kere, Juha ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN C RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 11; CHROMOSOME 15Q; CHROMOSOME 22Q; CHROMOSOME 7; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; DNA METHYLATION; FEMALE; GENOME ANALYSIS; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; CHILD; DNA COPY NUMBER VARIATIONS; FEMALE; GENES, RECESSIVE; GENETIC LOCI; GENOME, HUMAN; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LOSS OF HETEROZYGOSITY; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 78649631190     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.069427     Document Type: Article

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