Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Clin Case Rep
; 2(2): 25-32, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-25356238
ABSTRACT
KEY CLINICAL MESSAGE Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
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MEDLINE
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article