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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Br J Ophthalmol
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: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2020
Materias:
Clinical Science
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6998158/
https://ncbi.nlm.nih.gov/pubmed/31302631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2019-314293
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares