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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2020
Pynciau:
Original Articles
Mynediad Ar-lein: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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