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6. Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants. Pavone P, Saia F, Pappalardo X, Barbagallo M, Prato A, Rizzo R. Clin Case Rep; 2022 Dec; 10(12):e6529. PubMed ID: 36540882 [Abstract] [Full Text] [Related]
8. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female. Yi Z, Song Z, Li F, Yang C, Xue J, Li L, Zhang M, Zhang Y. Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253 [Abstract] [Full Text] [Related]
9. Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities. Ueda M, Matsuki T, Fukada M, Eda S, Toya A, Iio A, Tabata H, Nakayama A. Mol Brain; 2020 May 24; 13(1):80. PubMed ID: 32448361 [Abstract] [Full Text] [Related]
10. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., TUDP ConsortiumTelethon Institute of Genetics and Medicine, Pozzuoli, Italy., Anyane Yeboa K. Am J Med Genet A; 2021 Dec 24; 185(12):3740-3753. PubMed ID: 34331327 [Abstract] [Full Text] [Related]
16. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R. Pediatr Dermatol; 2020 May 24; 37(3):517-519. PubMed ID: 32045494 [Abstract] [Full Text] [Related]
17. Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report. Na J, Cui L, Zhen Z, Chen X, Li Q, Gao L, Yuan Y. BMC Pediatr; 2024 Apr 02; 24(1):232. PubMed ID: 38566089 [Abstract] [Full Text] [Related]
18. SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2. Langford J, Vukadin L, Carey JC, Botto LD, Velinder M, Mao R, Miller CE, Filloux F, Ahn EE. Neurol Genet; 2023 Jun 02; 9(3):e200062. PubMed ID: 37057295 [Abstract] [Full Text] [Related]
20. Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series. El-Said A, Morales JL, Rossi G, Longani N. Neurol Genet; 2023 Jun 02; 9(3):e200072. PubMed ID: 37168776 [Abstract] [Full Text] [Related] Page: [Next] [New Search]