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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Rech ME, et al. Am J Med Genet A. 2020 Jun;182(6):1426-1437. doi: 10.1002/ajmg.a.61580. Epub 2020 Apr 10. Am J Med Genet A. 2020. PMID: 32275123
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disabili …
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental …
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B, Amati-Bonneau P, Desquiret-Dumas V, Guehlouz K, Milea D, Gohier P, Lenaers G, Mirebeau-Prunier D, den Dunnen JT, Reynier P, Ferré M. Billiet B, et al. Hum Mutat. 2022 Feb;43(2):128-142. doi: 10.1002/humu.24305. Epub 2021 Dec 9. Hum Mutat. 2022. PMID: 34837429
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with …
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Sc …
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Starosta RT, Tarnowski J, Vairo FPE, Raymond K, Preston G, Morava E. Starosta RT, et al. Eur J Med Genet. 2020 Jul;63(7):103941. doi: 10.1016/j.ejmg.2020.103941. Epub 2020 May 11. Eur J Med Genet. 2020. PMID: 32407885 Free article.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. ...
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant s …
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.
Hobbs MM, Wolters WC, Rayapati AO. Hobbs MM, et al. J Psychiatr Pract. 2020 Jan;26(1):58-62. doi: 10.1097/PRA.0000000000000440. J Psychiatr Pract. 2020. PMID: 31913971 Review.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. ...
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant d …
Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
Desai NK, Kralik SF, Edmond JC, Shah V, Huisman TAGM, Rech M, Schaaf CP. Desai NK, et al. AJNR Am J Neuroradiol. 2023 Feb;44(2):212-217. doi: 10.3174/ajnr.A7758. Epub 2023 Jan 26. AJNR Am J Neuroradiol. 2023. PMID: 36702506 Free PMC article.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental a …
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome second …
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
Bojanek EK, Mosconi MW, Guter S, Betancur C, Macmillan C, Cook EH. Bojanek EK, et al. Am J Med Genet A. 2020 Jan;182(1):213-218. doi: 10.1002/ajmg.a.61409. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729143 Free PMC article.
Nuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic …
Nuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, …
Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child.
Kingrey B, Phornphutkul C, Chen W. Kingrey B, et al. J AAPOS. 2021 Oct;25(5):314-316. doi: 10.1016/j.jaapos.2021.05.007. Epub 2021 Aug 20. J AAPOS. 2021. PMID: 34425235
We report a case of confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with suspected optic nerve hypoplasia, corpus callosum agenesis, and low levels of insulin-like growth factor 1. This patient's presentation demonstrate …
We report a case of confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with suspect …
A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.
Sun Y, Guo L, Sha J, Tao H, Wang X, Liu Y, Zhai J, Wu J, Zhao Y. Sun Y, et al. Medicine (Baltimore). 2022 Oct 7;101(40):e30558. doi: 10.1097/MD.0000000000030558. Medicine (Baltimore). 2022. PMID: 36221391 Free PMC article.
RATIONALE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by loss-of-function variants in the Nuclear Receptor Subfamily 2 Group F Member 1 (NR2F1). ...
RATIONALE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental diso …
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study. Gazdagh G, et al. Am J Med Genet A. 2022 Mar;188(3):900-906. doi: 10.1002/ajmg.a.62569. Epub 2021 Nov 17. Am J Med Genet A. 2022. PMID: 34787370
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. ...
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized …
Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kocaaga A, Yimenicioglu S, Gürsoy HH. Kocaaga A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2762-2764. doi: 10.4103/ijo.IJO_1061_22. Indian J Ophthalmol. 2022. PMID: 35791240 Free PMC article.
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. ...
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant diso …
14 results