Discordant phenotypes in twins with infantile nystagmus

Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the first time the comprehensive assessment of diagnostically discordant...

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Publicado en:Sci Rep
Main Authors: Aamir, Abdullah, Kuht, Helen J., McLean, Rebecca J., Maconachie, Gail D. E., Sheth, Viral, Dawar, Basu, Purohit, Ravi, Sylvius, Nicolas, Hisaund, Michael, Zubcov-Iwantscheff, Alina, Proudlock, Frank A., Gottlob, Irene, Thomas, Mervyn G.
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7854608/
https://ncbi.nlm.nih.gov/pubmed/33531592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-82368-0
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