Williams syndrome: from genotype through to the cognitive phenotype.

doi:10.1002/1096-8628(200022)97:2<164::aid-ajmg8>3.0.co;2-f

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Article

Williams syndrome: from genotype through to the cognitive phenotype.

American journal of medical genetics - 1 Jan 2000

Donnai D, Karmiloff-Smith A

Abstract excerpt

Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associated with a distinctive facial appearance, cardiac abnormalities, infantile hypercalcemia, and growth and developmental retardation. The deletion is approximately 1.5Mb and includes approximately 17 genes. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal...

Topics

Animals
Cognition Disorders
Genotype
Humans
Phenotype
Williams Syndrome

Source

Open in PubMed

Identifiers

PMID: 11180224
DOI: 10.1002/1096-8628(200022)97:2<164::aid-ajmg8>3.0.co;2-f

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