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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15.
Eur J Hum Genet. 2022.
PMID: 34521999
Free PMC article.
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. ...Although small in numbers and while pathogenicity of these variants is not certain, these data allo …
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozyg …
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R.
Slezak R, et al.
Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24.
Mol Genet Genomic Med. 2020.
PMID: 32705777
Free PMC article.
The object of our paper is to present two patients with non-specific clinical symptoms for whom whole-exome-sequencing identified the new SON mutations and thus allowed for establishing the diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. In both patients, th …
The object of our paper is to present two patients with non-specific clinical symptoms for whom whole-exome-sequencing identified the new SO …
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A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Sah JP, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE 3rd, Lim SS, Ahn EE.
Vukadin L, et al.
JCI Insight. 2024 Mar 8;9(5):e175053. doi: 10.1172/jci.insight.175053.
JCI Insight. 2024.
PMID: 38290089
Free PMC article.
While patients with ZTTK syndrome live with numerous symptoms, the lack of model organisms hampers our understanding of SON and this complex syndrome. ...Son+/- mice recapitulated clinical symptoms of ZTTK syndrome, including growth retardation, cognit …
While patients with ZTTK syndrome live with numerous symptoms, the lack of model organisms hampers our understanding of SON an …
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A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R.
Pasca L, et al.
Neuropediatrics. 2024 Jun;55(3):191-195. doi: 10.1055/a-2114-4387. Epub 2023 Jun 21.
Neuropediatrics. 2024.
PMID: 37343586
A whole-exome sequencing analysis detected a novel heterozygous de novo variant c.1069_1070delAG in SON, predicted as likely pathogenic.To date, SON pathogenic variants have been described as responsible for Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a multis …
A whole-exome sequencing analysis detected a novel heterozygous de novo variant c.1069_1070delAG in SON, predicted as likely pathogen …
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