Copy number variants at Williams-Beuren syndrome 7q11.23 region

Human Genetics

Volumn 128, Issue 1, 2010, Pages 3-26

  Merla, Giuseppe ^a   Brunetti Pierri, Nicola ^b,c,d   Micale, Lucia ^a   Fusco, Carmela ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; NUCLEOTIDE;

ALLELE; AORTA SUPRAVALVULAR STENOSIS; CHROMOSOME 7Q; CLINICAL FEATURE; COGNITION; CONNECTIVE TISSUE; CONNECTIVE TISSUE DISEASE; COPY NUMBER VARIATION; DISEASE ASSOCIATION; ENDOCRINE DISEASE; EPIGENETICS; FACE DYSMORPHIA; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; HYPERCALCEMIA; MEIOSIS; NEUROLOGIC DISEASE; NONHUMAN; PRIORITY JOURNAL; REGULATORY SEQUENCE; REVIEW; SPEECH DISORDER; WILLIAMS BEUREN SYNDROME; ANIMAL; BIOLOGICAL MODEL; CARDIOVASCULAR MALFORMATION; CHROMOSOME 7; COGNITIVE DEFECT; CONGENITAL MALFORMATION; DISEASE MODEL; FACE; GENETICS; MOUSE; NERVOUS SYSTEM MALFORMATION;

ANIMALS; CARDIOVASCULAR ABNORMALITIES; CHROMOSOMES, HUMAN, PAIR 7; COGNITION DISORDERS; DISEASE MODELS, ANIMAL; DNA COPY NUMBER VARIATIONS; FACE; GENE DELETION; GENE DUPLICATION; GENETIC COUNSELING; GROWTH DISORDERS; HUMANS; MICE; MODELS, GENETIC; NERVOUS SYSTEM MALFORMATIONS; WILLIAMS SYNDROME;

EID: 77953980857     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0827-2     Document Type: Review

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