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|Title:||Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.|
|Citation:||Clin Case Rep.2017 Apr;(5)4:449-453|
|Abstract:||Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.|
|Appears in Collections:||Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos|
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