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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 - 2022 -
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations | Genetics in Medicine
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Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations - Rech - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child - ScienceDirect
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An inaugural family conference for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome brings together key stakeholders | NRI
Seven-year-old Fletcher was born with an ultra-rare disease, BBSOAS, and finally got a diagnosis this month - ABC News
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Fàtima Bosch gana el Premio de Investigación Fundación Dr. Antoni Esteve - Universitat Autònoma de Barcelona - UAB Barcelona
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Bosch-Boonstra-Schaaf Optic Atrophy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child - ScienceDirect
NR2F1 Foundation - Countdown to Rare Disease Day with the ABC's of NR2F1! B is for BBSOAS, Bosch Boonstra Schaaf optic atrophy syndrome #NR2F1Foundation #NR2F1 #BBSOAS #careaboutrare #RareDiseaseDay2021 #genetics | Facebook
![Bravo Bosch pone en valor el trabajo de la Asociación Síndrome de Turner Galicia por divulgar y dar a conocer este trastorno genético que afecta solamente a mujeres - Xunta de Galicia Bravo Bosch pone en valor el trabajo de la Asociación Síndrome de Turner Galicia por divulgar y dar a conocer este trastorno genético que afecta solamente a mujeres - Xunta de Galicia](https://www.xunta.gal/multimedia/portal-web/Imaxes/Novas/2014/Outubro/sindrome%20turner.jpg)