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Hypomyelination and Congenital Cataract: Three Siblings Presentation
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three sib...
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| Yayımlandı: | J Pediatr Neurosci |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wolters Kluwer - Medknow
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7847105/ https://ncbi.nlm.nih.gov/pubmed/33531944 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_161_18 |
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