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Article

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

European journal of medical genetics - 1 Apr 2022

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

Abstract excerpt

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. During the time, the original phenotype was expanded, including several complications, sensorineural hearing loss, congenital hypogonadotropic hypogonadism with...

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PMID: 35182807
DOI: 10.1016/j.ejmg.2022.104457

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