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Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia
BACKGROUND: Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia. CASE PRESENTATION: Herein we report a boy with both congenital fibrosis of extraocular muscles...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2013
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3704937/ https://ncbi.nlm.nih.gov/pubmed/23799907 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-63 |
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