Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations

Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypo...

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Bibliographic Details
Main Authors: Laura Florea, Lavinia Caba, Eusebiu Vlad Gorduza
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
Bardet–Biedl Syndrome
ciliopathy
heterogeneity
pleiotropy
variable expressivity
Online Access:https://www.mdpi.com/2073-4425/12/9/1353

Internet

https://www.mdpi.com/2073-4425/12/9/1353

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