Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_554-1
Reference5 articles.
1. Basel-Vanagaite L, Smirin-Yosef P, Essakow JL et al (2015) Homozygous MED25 mutation implicated in eye–intellectual disability syndrome. Hum Genet 134:577–587. https://doi.org/10.1007/s00439-015-1541-x
2. Figueiredo T, Melo US, Pessoa ALS et al (2015) Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. J Med Genet 52:123–127. https://doi.org/10.1136/jmedgenet-2014-102793
3. Haynes D, Pollack L, Prasad C et al (2020) Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: report of three patients. Am J Med Genet A 182:1785–1790
4. Maini I, Errichiello E, Caraffi SG et al (2021) Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding. Neurogenetics 22:19–25. https://doi.org/10.1007/s10048-020-00625-2
5. Nair P, Lama M, El-Hayek S et al (2019) COQ8A and MED25 mutations in a child with intellectual disability, microcephaly, seizures, and spastic ataxia: synergistic effect of digenic variants? Mol Syndromol 9:319–323. https://doi.org/10.1159/00049446
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