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bardet-biedl [2025/06/04 18:18] – [Resources] Scott Larsonbardet-biedl [2025/11/02 23:37] (current) – Scott Larson
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 ====Main Features==== ====Main Features====
   * Dysfunction of Brain, eye, kidneys and genitalia    * Dysfunction of Brain, eye, kidneys and genitalia 
 +  * [[ciliopathies|Ciliopathy]]
 ====Eye Findings==== ====Eye Findings====
   * Retinal degeneration (almost 100%)   * Retinal degeneration (almost 100%)
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    * Hypogonadism and Genitourinary abnormalities    * Hypogonadism and Genitourinary abnormalities
    * Cardiac defects    * Cardiac defects
 +<WRAP round box>
 {{ ::bardet-biedl_syndrome_diagnostic_features.png?800 |}} {{ ::bardet-biedl_syndrome_diagnostic_features.png?800 |}}
-From resource 1 below+From resource [1] below 
 +</WRAP>
  
 ====Etiology==== ====Etiology====
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 ====Resources==== ====Resources====
   - [[ https://www.dovepress.com/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM|Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Melluso A et al. Therapeutics and Clinical Risk Management. 2023;19:115-132]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EXfXe34FRcNGntsod7XOiYABm30Xp5UHpwLQy6rkNiCbMg?e=iSH8sS |-]]   - [[ https://www.dovepress.com/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM|Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Melluso A et al. Therapeutics and Clinical Risk Management. 2023;19:115-132]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EXfXe34FRcNGntsod7XOiYABm30Xp5UHpwLQy6rkNiCbMg?e=iSH8sS |-]]
-  - [[evaluation_of_visual_function_and_needs_in_adult_patients_with_bardet_biedl_syndrome.pdf |Evaluation of Visual Function and Needs in Adult Patients with Bardet-Biedl Syndrome. Denniston AK et al. Retina 2014;34:2282-2289]]+  - [[https://pubmed.ncbi.nlm.nih.gov/25170860/ |Evaluation of Visual Function and Needs in Adult Patients with Bardet-Biedl Syndrome. Denniston AK et al. Retina 2014;34:2282-2289]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EdXrpV6MFu9Ar_MXVbCbGu0BtxvjXfyqDIRYd4yt_QUt1w?e=MujaFj|-]]
  
 {{tag>syndrome}} {{tag>syndrome}}