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

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of <i>SON</i> 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 <i>SON</i>. Haploinsufficiency in <i>SON</i> may affect multiple genes, including those involved in the development a...

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Bibliographic Details
Main Authors: Andrea Pietrobattista, Luca Della Volpe, Paola Francalanci, Lorenzo Figà Talamanca, Lidia Monti, Francesca Romana Lepri, Maria Sole Basso, Daniela Liccardo, Claudia Della Corte, Antonella Mosca, Tommaso Alterio, Silvio Veraldi, Francesco Callea, Antonio Novelli, Giuseppe Maggiore
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
chronic liver disease
ZTTK syndrome
<i>SON</i> mutation
brain malformations
developmental delay
Online Access:https://www.mdpi.com/2073-4425/14/3/739

Internet

https://www.mdpi.com/2073-4425/14/3/739

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