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Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
Clinical Case Reports 2017 April
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.
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