Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

BACKGROUND: The genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality. METHODS: Two brothers with MED were referred to Leicester Royal Infirmary, UK from the local opticians. Their father had bilateral ptosis an...

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Detalles Bibliográficos
Autores principales: Thomas, Mervyn G, Maconachie, Gail D E, Constantinescu, Cris S, Chan, Wai-Man, Barry, Brenda, Hisaund, Michael, Sheth, Viral, Kuht, Helen J, Dineen, Rob A, Harieaswar, Sreemathi, Engle, Elizabeth C, Gottlob, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6998158/
https://www.ncbi.nlm.nih.gov/pubmed/31302631
http://dx.doi.org/10.1136/bjophthalmol-2019-314293

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