Ring Chromosome 8
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-47530-6_12
Reference17 articles.
1. Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS (2008) Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet 83(2):193–199. https://doi.org/10.1016/j.ajhg.2008.07.010
2. Bibas-Bonet H, Fontenla M, Fauze R, de Pinat G (2001) Ring chromosome 8: Microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype. Rev Neurol 32(8):746–750. https://doi.org/10.33588/rn.3208.2000303
3. Gradek GA, Kvistad PH, Houge G (2006) Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism. Eur J Med Genet 49(4):292–297. https://doi.org/10.1016/j.ejmg.2005.08.004
4. Graham JM, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA (2016) KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Am J Med Genet A 170(10):2632–2637. https://doi.org/10.1002/ajmg.a.37740
5. Gridina MM, Nilitina TV, Orlova PA, Minina JM, Kashevarova AA, Yakovleva YS, Lopatkina ME, Vasilyev SA, Fedotov DA, Mikhailik LI, Nazarenko LP, Lebedev IN, Serov OL (2020) Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism. Stem Cell Res 49(1):102024. https://doi.org/10.1016/j.scr.2020.102024
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