Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

BACKGROUND: The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy. This disorder is caused by loss‐of‐function alterations...

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Detalles Bibliográficos
Autores principales: Mio, Catia, Fogolari, Federico, Pezzoli, Laura, D’Elia, Angela V., Iascone, Maria, Damante, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336747/
https://www.ncbi.nlm.nih.gov/pubmed/32412696
http://dx.doi.org/10.1002/mgg3.1278

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