Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused by mutations or deletions in the NR2F1 gene....

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Detalles Bibliográficos
Autores principales: Bertacchi, Michele, Gruart, Agnès, Kaimakis, Polynikis, Allet, Cécile, Serra, Linda, Giacobini, Paolo, Delgado‐García, José M, Bovolenta, Paola, Studer, Michèle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685104/
https://www.ncbi.nlm.nih.gov/pubmed/31318166
http://dx.doi.org/10.15252/emmm.201910291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685104/
https://www.ncbi.nlm.nih.gov/pubmed/31318166
http://dx.doi.org/10.15252/emmm.201910291

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