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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898607/ https://www.ncbi.nlm.nih.gov/pubmed/33369054 http://dx.doi.org/10.1002/ajmg.a.62013 |
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