De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Vaccari, Carlotta M ^a   Romanini, Maria V ^a   Musante, Ilaria ^a   Tassano, Elisa ^b   Gimelli, Stefania ^c   Divizia, Maria T ^b   Torre, Michele ^b   Morovic, Carmen G ^d   Lerone, Margherita ^b   Ravazzolo, Roberto ^a,b   Puliti, Aldamaria ^a,b  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d HOSPITAL LUIS CALVO MACKENNA   (Chile)

Author keywords

Chromosome 11q deletion; CNV; Congenital abnormalities; HRASLS2; HRASLS5; Monozygotic twins; PLA2G16; Poland syndrome; RARRES3

Indexed keywords

RAS PROTEIN;

ADOLESCENT; APOPTOSIS; ARTICLE; ASPHYXIA; CASE REPORT; CELL DIFFERENTIATION; CELL GROWTH; CHROMOSOME 11Q; CHROMOSOME 12; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC COUNSELING; GENETIC REGULATION; GENOTYPE; HRASLS2 GENE; HRASLS5 GENE; HUMAN; LOW BIRTH WEIGHT; MALE; MONOZYGOTIC TWINS; PECTORALIS MAJOR MUSCLE; PHENOTYPE; PLA2G16 GENE; POLAND SYNDROME; RARRES3 GENE; SCOLIOSIS; SIGNAL TRANSDUCTION; THORAX MALFORMATION; THYROGLOSSAL DUCT CYST; TUMOR SUPPRESSOR GENE; VERTEBRA MALFORMATION; ZYGOSITY;

ADOLESCENT; BREAST; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; MICROSATELLITE REPEATS; PHENOTYPE; POLAND SYNDROME; TWINS, MONOZYGOTIC;

EID: 84902201913     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-63     Document Type: Article

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