Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
NK Desai, SF Kralik, JC Edmond… - American Journal …, 2023 - Am Soc Neuroradiology
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant
syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual …
syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual …
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
ME Rech, JM McCarthy, CA Chen… - American Journal of …, 2020 - Wiley Online Library
Abstract Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
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 …
Abstract Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital
syndrome characterized by a range of phenotypes including optic atrophy and intellectual …
syndrome characterized by a range of phenotypes including optic atrophy and intellectual …
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic …
C Kaiwar, MT Zimmermann… - Molecular …, 2017 - molecularcasestudies.cshlp.org
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described
autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently …
autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently …
Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review
MM Hobbs, WC Wolters… - Journal of Psychiatric …, 2020 - journals.lww.com
Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described
autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group …
autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group …
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
S Walsh, SS Gösswein, A Rump… - European journal of …, 2020 - Elsevier
Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as
an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common …
an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common …
[HTML][HTML] The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
CA Chen, DGM Bosch, MT Cho, JA Rosenfeld… - Genetics in …, 2016 - nature.com
Purpose: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-
dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of …
dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of …
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
B Billiet, P Amati‐Bonneau… - Human …, 2022 - Wiley Online Library
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 …
are responsible for Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS), an …
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
C Mio, F Fogolari, L Pezzoli, AV D'Elia… - … Genetics & Genomic …, 2020 - Wiley Online Library
Abstract Background The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an
autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or …
autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or …
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
V van Renterghem, C Vilain, K Devriendt… - European Journal of …, 2023 - Elsevier
Abstract Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS, OMIM 615722) is a
rare autosomal dominant disorder characterized by intellectual disability, optic atrophy …
rare autosomal dominant disorder characterized by intellectual disability, optic atrophy …
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