Prenatal diagnosis of Bardet Biedl Syndrome: A case report

Prenatal diagnosis of Bardet Biedl Syndrome: A case report

The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in absence of family history...

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Bibliographic Details
Main Authors: Ena Arora, MD, Aleksandr Fuks, MD, Jessica Meyer, MD, Judith Chervenak, MD
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Radiology Case Reports
Subjects:
Bardet Biedl
Ciliopathy
Autosomal recessive
Obstructive uropathy
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043322009189

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http://www.sciencedirect.com/science/article/pii/S1930043322009189

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