CTBNN1, Case Report, Bibliografia

  1. Ligt, J.; Willemsen, M.H.; van Bon, B.W.;Kleefstra, T.; Yntema, H.G.; Kroes, T.; Vulto-van Silfhout, A.T.; Koolen, D.A.; de Vries, P.;Gilissen, C.; et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 2012 367, 1921–1929
  2. Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature. Int J Mol Sci. 2022 Oct 19;23(20):12564.
  3. Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Calcagni G. Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clin Genet. 2023 Nov;104(5):528-541.
  4. Ho SKL, Tsang MHY, Lee M, et al. CTNNB1 Neurodevelopmental Disorder. 2022 May 19. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
  5. Kayumi S, Pérez-Jurado LA, Palomares M, et al. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022;
  6. Winczewska-Wiktor A, Badura-Stronka M, Monies-Nowicka A, Nowicki MM, Steinborn B, Latos-Bieleńska A, Monies D. A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. BMC Neurol. 2016 Mar 12;16:35.
  7. Bulot V, Ramond F, Mauguière F, Mazzola L. Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects. Neurol Genet. 2022 Nov 21;8(6):e200039.
  8. Margaret A French, Ryan T Roemmich, Kelly Daley, Meghan Beier, Sharon Penttinen, Preeti Raghavan, Peter Searson, Stephen Wegener, Pablo Celnik.Precision Rehabilitation: Optimizing Function, Adding Value to Health Care Arch Phys Med Rehabil 2022 Jun;103(6):1233-1239 2022
  9. Yaojin Sun1, Nan Jiang1,*, Min Zhu1 and Hao Hua2 Precise Rehabilitation Strategies for Functional Impairment in Children with Cerebral Palsy IASC,(Intelligent Automation & Soft Computing) 3191-3202 vol.36, no.3, 2023