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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Detalhes bibliográficos
Publicado no:Brain
Principais autores: Mayer, Anja K., Mahajnah, Muhammad, Thomas, Mervyn G., Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I., Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha: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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