Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 64-70

  Fusco, Carmela ^a   Micale, Lucia ^a   Augello, Bartolomeo ^a   Teresa Pellico, Maria ^a   Menghini, Deny ^b   Alfieri, Paolo ^b   Cristina Digilio, Maria ^b   Mandriani, Barbara ^a,c   Carella, Massimo ^a   Palumbo, Orazio ^a   Vicari, Stefano ^b   Merla, Giuseppe ^a,d  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

Author keywords

7q11.23; haploinsufficiency; qPCR; Williams Beuren syndrome

Indexed keywords

LAMOTRIGINE; TYROSINE 3 MONOOXYGENASE; BAZ1B PROTEIN, HUMAN; DNA BINDING PROTEIN; FRIZZLED PROTEIN; FZD9 PROTEIN, HUMAN; HIP1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; AGGRESSIVENESS; ALU SEQUENCE; ANGER; ANTEVERTED NOSTRIL; ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOMUTILATION; CENTROMERE; CHILD; CHILD BEHAVIOR CHECKLIST; CHROMOSOME 7Q; CHROMOSOME 7Q11.23; CHROMOSOME DELETION; CLINICAL ARTICLE; COMMUNICATION DISORDER; CONGENITAL HEART MALFORMATION; CONVERGENT STRABISMUS; ECHOCARDIOGRAPHY; EPICANTHUS; EPILEPSY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; HUNTINGTIN INTERACTING PROTEIN 1 GENE; HYPERACTIVITY; HYPERTENSION; HYPOPLASIA; IMPULSIVENESS; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KYPHOSIS; LONG PHILTRUM; LOW SET EAR; MALOCCLUSION; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OBESITY; OBSESSION; PALPEBRAL FISSURE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCOLIOSIS; SHORT NOSE; STRABISMUS; SUBLUXATION; TANDEM REPEAT; TELOMERE; TONIC CLONIC SEIZURE; TRUNCAL OBESITY; TYROSINE 3 MONOOXYGENASE TRYPTOPHAN 5 MONOOXIGENASE ACTIVATION PROTEIN GAMMA GENE; ULTRASOUND; UMBILICAL HERNIA; WILLIAMS BEUREN SYNDROME; ZYGOMATIC BONE HYPOPLASIA; ADULT; AUTISTIC DISORDER; CHROMOSOME 7; GENETIC ASSOCIATION; GENETICS; MALE; PATHOLOGY; WILLIAMS SYNDROME;

ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; FRIZZLED RECEPTORS; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; MALE; TRANSCRIPTION FACTORS; WILLIAMS SYNDROME;

EID: 84890788629     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.101     Document Type: Article

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