- Case Report
- A Case of Williams Syndrome Diagnosed by FISH
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Hyun Kim, Won Bae Lee, Won Bae Lee
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Clin Exp Pediatr. 1998;41(10):1433-1437. Published online October 15, 1998
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Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect(particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial... |
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