BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
Author:
Affiliation:
1. Scientific Research Institute of Paediatrics named after K.Y. Farajova
Publisher
Scientific Society Anatomists, Histologists, and Embryologists, Ukraine
Reference10 articles.
1. Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, et al. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2016 Dec;18(12):1244–1249. doi: 10.1038/gim.2016.37.
2. Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, et al. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun;134(6):577–87. doi: 10.1007/s00439-015-1541-x.
3. Basel-Vanagaite-Smirin-Yosef Syndrome; BVSYS. OMIM. Available at: https://www.omim.org/entry/616449
4. Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. J Med Genet. 2015 Feb;52(2):123–7. doi: 10.1136/jmedgenet-2014-102793.
5. Haynes D, Pollack L, Prasad C, Goobie S, Colaiacovo S, Wolfinger T, et al. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. Am J Med Genet A. 2020 Jul;182(7):1785–1790. doi: 10.1002/ajmg.a.61603.
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