Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association?

Giuditta Pellino, Lucia Chiasso, Giulia Fiori, Serena Mazzone,Daniele Zama,Duccio Maria Cordelli,Angelo Russo

European Journal of Medical Genetics（2022）

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摘要

Weiss-Kruszka syndrome is a recently described genetic disorder characterized by craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. It is caused by heterozygous loss-of-function variantsin ZNF462 gene.

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关键词

Weiss-kruszka syndrome,Loss of function variants,Acute lymphoblastic leukemia,9q31.1q31.3 deletion

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