Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williamse-Beuren syndrome neurocognitive profile

Journal of Medical Genetics

Volumn 47, Issue 5, 2010, Pages 312-320

  Antonell, A ^a   Del Campo, M ^a,b   Magano, L F ^a   Kaufmann, L ^c,d   De La Iglesia, J Martínez ^e   Gallastegui, F ^a   Flores, R ^a   Schweigmann, U ^c   Fauth, C ^c   Kotzot, D ^c   Perez Jurado L A ^a,b  

^a UNIVERSITAT POMPEU FABRA   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITY OF SALZBURG   (Austria)

^e Centro de Salud Lucano   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CHILD; CHROMOSOME 7Q; CHROMOSOME 7Q11.23; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL MALFORMATION; CONNECTIVE TISSUE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; HEMIZYGOSITY; HUMAN; INFANT; INTELLIGENCE QUOTIENT; LYMPHOBLASTOID CELL; LYMPHOBLASTOID CELL LINE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

ADULT; CELL LINE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MUSCLE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS, TFII; WILLIAMS SYNDROME; YOUNG ADULT;

EID: 77952766056     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.071712     Document Type: Article

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