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Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy

Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence o...

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Autori principali: Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4048012/
https://ncbi.nlm.nih.gov/pubmed/20503315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33416
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