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Volumn 152, Issue 2, 2010, Pages 434-437
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Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2
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Author keywords
Deletion 7q11.23; Infantile spasms; MAGI2; Williams Beuren genetic syndrome
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Indexed keywords
AORTA SUBVALVULAR STENOSIS;
ARTICLE;
CHILD;
CHROMOSOME 7Q;
CHROMOSOME DELETION;
CYTOGENETICS;
FEMALE;
GENE;
HEART ATRIUM SEPTUM DEFECT;
HEART VENTRICLE SEPTUM DEFECT;
HEMIZYGOSITY;
HUMAN;
INFANTILE SPASM;
KARYOTYPING;
MAGI 2 GENE;
MOLECULAR TYPING;
PATHOGENESIS;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
CARRIER PROTEINS;
CHROMOSOME ABERRATIONS;
CHROMOSOME DELETION;
CHROMOSOMES, HUMAN, PAIR 7;
COMPARATIVE GENOMIC HYBRIDIZATION;
FEMALE;
HUMANS;
INFANT;
KARYOTYPING;
MICROSATELLITE REPEATS;
SEQUENCE DELETION;
SPASMS, INFANTILE;
SYNDROME;
WILLIAMS SYNDROME;
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EID: 75449099063
PISSN: 15524825
EISSN: 15524833
Source Type: Journal
DOI: 10.1002/ajmg.a.33220 Document Type: Article |
Times cited : (26)
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References (8)
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