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

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. Cons...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048019/
https://www.ncbi.nlm.nih.gov/pubmed/36981010
http://dx.doi.org/10.3390/genes14030739

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