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10.3346/jkms.2021.36.e133

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder.

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10.1101/2021.06.28.449463

ZNF462 haploinsufficiency is linked to Weiss-Kruszka Syndrome, a genetic disorder characterized by a range of neurodevelopmental defects including Autism.

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10.1210/jendso/bvab048.1262

Objective: Weiss-Kruszka syndrome (WSKA; MIM#618,619) is a rare, autosomal dominant disorder associated with zinc finger protein 462 (ZNF462) gene variation or deletion of 9q31.

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Weiss Kruszka Syndrome

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Feb 08, 2023

What is/are Weiss Kruszka Syndrome?

Weiss Kruszka Syndrome - Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. ^[1] ZNF462 haploinsufficiency is linked to Weiss-Kruszka Syndrome, a genetic disorder characterized by a range of neurodevelopmental defects including Autism. ^[2] Objective: Weiss-Kruszka syndrome (WSKA; MIM#618,619) is a rare, autosomal dominant disorder associated with zinc finger protein 462 (ZNF462) gene variation or deletion of 9q31. ^[3]