Discordant phenotypes in twins with infantile nystagmus

Discordant phenotypes in twins with infantile nystagmus

Abstract 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 di...

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Bibliographic Details
Main Authors: Abdullah Aamir, Helen J. Kuht, Rebecca J. McLean, Gail D. E. Maconachie, Viral Sheth, Basu Dawar, Ravi Purohit, Nicolas Sylvius, Michael Hisaund, Alina Zubcov-Iwantscheff, Frank A. Proudlock, Irene Gottlob, Mervyn G. Thomas
Format: Article
Language:English
Published: Nature Portfolio 2021-02-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-82368-0

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https://doi.org/10.1038/s41598-021-82368-0

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