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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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| Huvudupphovsmän: | , , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2010
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| Ämnen: | |
| Länkar: | 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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