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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities....
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| Pubblicato in: | Brain |
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| Autori principali: | , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6766433/ https://ncbi.nlm.nih.gov/pubmed/31009037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz098 |
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