An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 33-38

  Ferrero, Giovanni Battista ^a   Howald, Cédric ^b   Micale, Lucia ^c   Biamino, Elisa ^a   Augello, Bartolomeo ^c   Fusco, Carmela ^c,d   Turturo, Maria Giuseppina ^c   Forzano, Serena ^a   Reymond, Alexandre ^b   Merla, Giuseppe ^c  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF FOGGIA   (Italy)

Author keywords

7q11.23; haploinsufficiency; mental retardation; microdeletion; Williams Beuren syndrome

Indexed keywords

ISOXSUPRINE; LEVOTHYROXINE;

ARTICLE; ATTENTION DEFICIT DISORDER; BAZ1B GENE; BINOCULAR CONVERGENCE; CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CONTROLLED STUDY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GTF2I GENE; GTF2IRD1 GENE; HEMIZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHESIS; INTELLIGENCE QUOTIENT; MALE; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPONTANEOUS PLACENTAL DELIVERY; SYSTOLIC HEART MURMUR; ULTRASOUND; UMBILICAL HERNIA; UTERUS CONTRACTION; WILLIAMS BEUREN SYNDROME; ADULT; COGNITION; FEMALE; GENETICS; HUMAN GENOME; INFANT; INTELLIGENCE TEST; NEWBORN; POLYMERASE CHAIN REACTION; PREGNANCY;

MUS;

ADULT; CHILD; CHROMOSOME DELETION; COGNITION; FEMALE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; INTELLIGENCE TESTS; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; WILLIAMS SYNDROME;

EID: 77449091623     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.108     Document Type: Article

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