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. 1995 Oct;96(4):444-8.
doi: 10.1007/BF00191804.

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

A Mari  1 , F Amati, R Mingarelli, A Giannotti, G Sebastio, V Colloridi, G Novelli, B Dallapiccola
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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

A Mari et al. Hum Genet. 1995 Oct.

Abstract

Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.

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