Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

Abstract Background The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a challenge. The object of our paper is to pre...

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Bibliographic Details
Main Authors: Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
intellectual disability
psychomotor delay
SON gene
Zhu‐Tokita‐Takenouchi‐Kim syndrome
Online Access:https://doi.org/10.1002/mgg3.1432

Internet

https://doi.org/10.1002/mgg3.1432

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