Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairmen...

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Bibliographic Details
Main Authors: Ina Ofelia FOCSA, Magdalena BUDISTEANU, Cristina STOICA, Florina NEDELEA, Claudia JURCA, Lavinia CABA, Lacramioara BUTNARIU, Monica PANZARU, Cristina RUSU, Mihaela BALGRADEAN
Format: Article
Language:English
Published: Bucharest College of Physicians 2022-03-01
Series:Modern Medicine
Subjects:
bardet biedl syndrome
ciliopathies
multiorgan involvement
pleiotropy
oligogenic
inheritance
Online Access:https://medicinamoderna.ro/wp-content/uploads/2022/03/Clinical-Aspects-of-a-Rare-Disease-Bardet-Biedl-Syndrome.pdf
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https://medicinamoderna.ro/wp-content/uploads/2022/03/Clinical-Aspects-of-a-Rare-Disease-Bardet-Biedl-Syndrome.pdf

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