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Article

Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome.

BMC medical genomics - 5 Nov 2024

Han Chunxiao, Chen Changshui, Zhang Yuxin, Li Haibo

Abstract excerpt

BACKGROUND: Weiss-Kruszka syndrome (WSKA) is a rare autosomal dominant syndrome characterized by multiple congenital anomalies caused by variants in the zinc finger protein 462 gene (ZNF462). About 40 cases of Weiss-Kruszka syndrome have been reported worldwide, and the aim of this study was to investigate the genetic causes of three patients from two Weiss-Kruszka syndrome family pedigrees with the aim of...

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Identifiers

PMID: 39501256
DOI: 10.1186/s12920-024-02035-x
PMCID: PMC11536911

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