Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear recept...

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Detalles Bibliográficos
Autores principales: Kocaaga, Ayca, Yimenicioglu, Sevgi, Gürsoy, Haluk Hüseyin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Rare Eye Diseases, Photo Essay
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426133/
https://www.ncbi.nlm.nih.gov/pubmed/35791240
http://dx.doi.org/10.4103/ijo.IJO_1061_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426133/
https://www.ncbi.nlm.nih.gov/pubmed/35791240
http://dx.doi.org/10.4103/ijo.IJO_1061_22

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