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Ciliopathies

Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases characterized...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Hildebrandt, Friedhelm, Benzing, Thomas, Katsanis, Nicholas
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3640822/
https://ncbi.nlm.nih.gov/pubmed/21506742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMra1010172
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