Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

Journal of Medical Genetics

Volumn 36, Issue 6, 1999, Pages 478-480

  Botta, A ^a   Novelli, G ^a   Mari, A ^a   Novelli, A ^a,e   Sabani, M ^a   Korenberg, J ^b   Osborne, L R ^c   Digilio, M C ^d   Giannotti, A ^d   Dallapiccola, B ^a  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Elastin; Frizzled; Syntaxin; Williams syndrome

Indexed keywords

ELASTIN; MICROSATELLITE DNA; SYNTAXIN;

ARTICLE; BLOOD CHEMISTRY; CASE REPORT; CHROMOSOME 7Q; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DROSOPHILA; FEMALE; GENE DELETION; GENOTYPE; HEMIZYGOSITY; HUMAN; INTELLIGENCE QUOTIENT; ITALY; LANGUAGE DISABILITY; MALE; MARKER GENE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; WILLIAMS BEUREN SYNDROME;

EID: 0032999601     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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