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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker