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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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Article
Online adgang: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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