Article

A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis

2023-11-19

Abstract excerpt

Rare diseases are underrepresented in biomedical research, leading to insufficient awareness. Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare disease caused by genetic alterations that result in heterozygous loss-of-function of SON. While ZTTK syndrome patients suffer from numerous symptoms, the lack of model organisms hamper our understanding of both SON and this complex syndrome. Here, we developed Son hapl...

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Literature Corpus work: 27d57bba-8305-5da8-ab33-386ed45af668
DOI: 10.1101/2023.11.19.567732

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