The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.

doi:10.3390/genes14030739

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The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.

Genes - 17 Mar 2023

Pietrobattista Andrea, Della Volpe Luca, Francalanci Paola, Figà Talamanca Lorenzo, Monti Lidia, Lepri Francesca Romana, Basso Maria Sole, Liccardo Daniela, Della Corte Claudia, Mosca Antonella, Alterio Tommaso, Veraldi Silvio, Callea Francesco, Novelli Antonio, Maggiore Giuseppe

Abstract excerpt

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Haploinsufficiency in SON may affect multiple genes, including those involved in the development and metabolism of multiple organs. Considering the broad spectrum of SON functions, it is to be expected that pathogenic variants in this gene can cause a...

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PMID: 36981010
DOI: 10.3390/genes14030739
PMCID: PMC10048019

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