Bibliografía
- Bainbridge M, Hu H, Muzny D, Musante L, Lupski J, Graham B, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz síndrome. Genome Med. 2013;5:11.
- Balasubramanian M, Willoughby J, Fry AE, Weber E, Firth HV, Deshpande C, et al. Delineating the phenotypic sprectrum of Bainbridge- Ropers syndrome: 12 new patients with the novo, heterozygous, los of function mutations in ASXL3 and review of published literature. J Med Genet. 2017;54:537-43.
- Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am J Med Genet A. 2016;170:1863-7.
- Srivasta A, Ritesh K.C, Tsan Y-C, Liao R, Su F, Cao X, et al. De novo dominant ASXL3 mutations alter H2A deubiquination and transcription in Bainbridge- Ropers syndrome. Am J Med Genet A. 2016 Jul;170:1863-7.
Valoración
Nº de votos: 5
Realice esta actividad para poder valorarla.
No hay comentarios Esta actividad no admite más comentarios
Compartir
