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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Publicat a:Sci Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2021
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Article
Accés en línia: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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