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Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH) technique employing the elastin gene probe. In each case there was a fluorescent signal on one chromosome 7 homologue only, indicating...

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Autors principals: Brewer, C M, Morrison, N, Tolmie, J L
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511580/
https://ncbi.nlm.nih.gov/pubmed/8660051
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