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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked recessive inheritance pattern. Affected males presented with mental retardation accompanied by postaxial polydactyly and retinitis pigmentosa. Br...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2756557/ https://ncbi.nlm.nih.gov/pubmed/19800048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.002 |
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