Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene
Bosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spas...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2020-12-01
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| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/406 |