Ciliopathies: Coloring outside of the lines

Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of syst...

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Bibliographische Detailangaben
Veröffentlicht in:Am J Med Genet A
Hauptverfasser: Strong, Alanna, Li, Dong, Mentch, Frank, Bedoukian, Emma, Hartung, Erum A., Meyers, Kevin, Skraban, Cara, Wen, Jessica, Medne, Livija, Glessner, Joseph, Watson, Deborah, Krantz, Ian, Hakonarson, Hakon
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2020
Schlagworte:
Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898607/
https://ncbi.nlm.nih.gov/pubmed/33369054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62013
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