A case of KAT6A syndrome with a newly discovered mutation in the < em > KAT6A < /em > gene, mainly manifested as bone marrow failure syndrome

Conclusion: This study not only provides us with an in-depth understanding of this rare syndrome but also deepens our understanding of the function of KAT6A.PMID:36880793 | DOI:10.1080/16078454.2023.2182159

Source: Hematology - March 7, 2023 Category: Hematology Authors: Qi Ai Lihua Jiang Yun Chen Xiuyun Yao Jing Yin Sen Chen Source Type: research