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Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis of CED, we colle...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Elsevier
2010
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3032067/ https://ncbi.nlm.nih.gov/pubmed/20493458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.012 |
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